3372b76bb384733293ccee57b95bbb0f  pdf_223206.pdf
5edf3b90fda5e38d6630c0e3ab2bfd68ab260af1  pdf_223206.pdf
0d7ebe320eb6142fec05101a97d84ad3cd69709dc7259125953a1c6773b48fe8  pdf_223206.pdf

Title:          Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
Subject:        Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and
Keywords:       whole exome sequencing, MAMLD1, disorders/differences of sex development, hypospadias, phenotype variability, oligogenic disorder
Author:         Christa E. Flück
Creator:        Adobe InDesign CC 2015 (Windows)
Producer:       Adobe PDF Library 15.0
CreationDate:   Wed Aug 28 09:27:15 2019 CEST
ModDate:        Fri Feb 19 15:21:14 2021 CET
Tagged:         yes
UserProperties: no
Suspects:       no
Form:           none
JavaScript:     no
Pages:          17
Encrypted:      no
Page size:      595.276 x 779.528 pts
Page rot:       0
File size:      1452150 bytes
Optimized:      yes
PDF version:    1.4


name                                 type              encoding         emb sub uni object ID
------------------------------------ ----------------- ---------------- --- --- --- ---------
HelveticaNeueLTStd-Bd                Type 1C           Custom           yes no  yes   6860  0
HelveticaNeueLTStd-Lt                Type 1C           Custom           yes no  yes   6861  0
HelveticaNeueLTStd-BdIt              Type 1C           WinAnsi          yes no  yes   6873  0
HelveticaNeueLTStd-LtIt              Type 1C           Custom           yes no  yes   6874  0
HelveticaNeueLTStd-MdIt              Type 1C           WinAnsi          yes no  yes   6882  0
MinionPro-Regular                    Type 1C           Custom           yes no  yes    143  0
MinionPro-It                         Type 1C           Custom           yes no  yes    146  0
MinionPro-Bold                       Type 1C           Custom           yes no  yes    151  0
ERSENP+STIXGeneral                   Type 1C           WinAnsi          yes yes yes    156  0


Jhove (Rel. 1.22.1, 2019-04-17)
 Date: 2021-04-29 02:35:22 CEST
 RepresentationInformation: pdf_223206.pdf
  ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17)
  LastModified: 2021-02-19 15:21:35 CET
  Size: 1452150
  Format: PDF
  Version: 1.4
  Status: Well-Formed, but not valid
  SignatureMatches:
   PDF-hul
  ErrorMessage: Annotation object is not a dictionary
   Offset: 194838
  MIMEtype: application/pdf
  Profile: Linearized PDF
  PDFMetadata: 
   Objects: 6941
   FreeObjects: 6610
   IncrementalUpdates: 1
   DocumentCatalog: 
    ViewerPreferences: 
     HideToolbar: false
     HideMenubar: false
     HideWindowUI: false
     FitWindow: false
     CenterWindow: false
     DisplayDocTitle: false
     NonFullScreenPageMode: UseNone
     Direction: L2R
     ViewArea: CropBox
     ViewClip: CropBox
     PrintArea: CropBox
     PageClip: CropBox
    PageLayout: SinglePage
    PageMode: UseOutlines
    Outlines: 
     Item: 
      Title: Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
      Children: 
       Item: 
        Title: Introduction
       Item: 
        Title: Patients and Methods
        Children: 
         Item: 
          Title: Patients
         Item: 
          Title: DNA Extraction, WES and Bioinformatic Analysis
         Item: 
          Title: Variant Analysis Per Patient
       Item: 
        Title: Results
       Item: 
        Title: Discussion
       Item: 
        Title: Data Availability
       Item: 
        Title: Ethics Statement
       Item: 
        Title: Author Contributions
       Item: 
        Title: Funding
       Item: 
        Title: Acknowledgments
       Item: 
        Title: Supplementary Material
       Item: 
        Title: References
   Info: 
    Title: Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease
    Author: Christa E. Flück
    Subject: Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and
    Keywords: whole exome sequencing, MAMLD1, disorders/differences of sex development, hypospadias, phenotype variability, oligogenic disorder
    Creator: Adobe InDesign CC 2015 (Windows)
    Producer: Adobe PDF Library 15.0
    CreationDate: Wed Aug 28 09:27:15 CEST 2019
    ModDate: Fri Feb 19 15:21:14 CET 2021
   ID: 0xf0b4344dde7ff948970fa1147025a772, 0x7c6a66ad02fa404a9d72a27a2af4e3ac
   Filters: 
    FilterPipeline: FlateDecode
    FilterPipeline: DCTDecode
   Images: 
    Image: 
     NisoImageMetadata: 
      FormatName: image/jpg
      CompressionScheme: JPEG
      ImageWidth: 1654
      ImageHeight: 1126
      ColorSpace: RGB
      BitsPerSample: 8
      BitsPerSampleUnit: integer
     Intent: RelativeColorimetric
     Name: X
    Image: 
     NisoImageMetadata: 
      FormatName: image/jpg
      CompressionScheme: JPEG
      ImageWidth: 1925
      ImageHeight: 2634
      ColorSpace: RGB
      BitsPerSample: 8
      BitsPerSampleUnit: integer
     Intent: RelativeColorimetric
     Name: X
   Fonts: 
    Type1: 
     Font: 
      BaseFont: HelveticaNeueLTStd-MdIt
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: HelveticaNeueLTStd-MdIt
       Flags: Nonsymbolic, Italic
       FontBBox: -165, -218, 1125, 947
       FontFile3: true
      Encoding: WinAnsiEncoding
      ToUnicode: true
     Font: 
      BaseFont: MinionPro-It
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: MinionPro-It
       Flags: Serif, Nonsymbolic, Italic
       FontBBox: -201, -360, 1684, 919
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
     Font: 
      BaseFont: MinionPro-Bold
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: MinionPro-Bold
       Flags: Serif, Nonsymbolic
       FontBBox: -318, -360, 1684, 917
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
     Font: 
      BaseFont: HelveticaNeueLTStd-BdIt
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: HelveticaNeueLTStd-BdIt
       Flags: Nonsymbolic, Italic
       FontBBox: -166, -218, 1129, 975
       FontFile3: true
      Encoding: WinAnsiEncoding
      ToUnicode: true
     Font: 
      BaseFont: HelveticaNeueLTStd-LtIt
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: HelveticaNeueLTStd-LtIt
       Flags: Nonsymbolic, Italic
       FontBBox: -165, -214, 1099, 951
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
     Font: 
      BaseFont: HelveticaNeueLTStd-Bd
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: HelveticaNeueLTStd-Bd
       Flags: Nonsymbolic
       FontBBox: -166, -218, 1078, 975
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
     Font: 
      BaseFont: ERSENP+STIXGeneral
      FontSubset: true
      FirstChar: 153
      LastChar: 174
      FontDescriptor: 
       FontName: ERSENP+STIXGeneral
       Flags: Serif, Nonsymbolic
       FontBBox: -178, -443, 2000, 1023
       FontFile3: true
      Encoding: WinAnsiEncoding
      ToUnicode: true
     Font: 
      BaseFont: HelveticaNeueLTStd-Lt
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: HelveticaNeueLTStd-Lt
       Flags: Nonsymbolic
       FontBBox: -166, -214, 1050, 967
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
     Font: 
      BaseFont: MinionPro-Regular
      FirstChar: 0
      LastChar: 255
      FontDescriptor: 
       FontName: MinionPro-Regular
       Flags: Serif, Nonsymbolic
       FontBBox: -289, -360, 1684, 917
       FontFile3: true
      EncodingDictionary: 
       BaseEncoding: WinAnsiEncoding
       Differences: true
      ToUnicode: true
   XMP: <x:xmpmeta xmlns:x="adobe:ns:meta/" x:xmptk="Adobe XMP Core 5.6-c017 91.164464, 2020/06/15-10:20:05        ">
   <rdf:RDF xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#">
      <rdf:Description rdf:about=""
            xmlns:dc="http://purl.org/dc/elements/1.1/"
            xmlns:xmp="http://ns.adobe.com/xap/1.0/"
            xmlns:xmpMM="http://ns.adobe.com/xap/1.0/mm/"
            xmlns:stRef="http://ns.adobe.com/xap/1.0/sType/ResourceRef#"
            xmlns:stEvt="http://ns.adobe.com/xap/1.0/sType/ResourceEvent#"
            xmlns:pdf="http://ns.adobe.com/pdf/1.3/">
         <dc:format>application/pdf</dc:format>
         <dc:title>
            <rdf:Alt>
               <rdf:li xml:lang="x-default">Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease</rdf:li>
            </rdf:Alt>
         </dc:title>
         <dc:description>
            <rdf:Alt>
               <rdf:li xml:lang="x-default">Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and</rdf:li>
            </rdf:Alt>
         </dc:description>
         <dc:creator>
            <rdf:Bag>
               <rdf:li>Christa E. Flück</rdf:li>
               <rdf:li>Laura Audí</rdf:li>
               <rdf:li>Mónica Fernández-Cancio</rdf:li>
               <rdf:li>Kay-Sara Sauter</rdf:li>
               <rdf:li>Idoia Martinez de LaPiscina</rdf:li>
               <rdf:li>Luis Castaño</rdf:li>
               <rdf:li>Isabel Esteva</rdf:li>
               <rdf:li>Núria Camats</rdf:li>
            </rdf:Bag>
         </dc:creator>
         <dc:subject>
            <rdf:Bag>
               <rdf:li>whole exome sequencing</rdf:li>
               <rdf:li>MAMLD1</rdf:li>
               <rdf:li>disorders/differences of sex development</rdf:li>
               <rdf:li>hypospadias</rdf:li>
               <rdf:li>phenotype variability</rdf:li>
               <rdf:li>oligogenic disorder</rdf:li>
            </rdf:Bag>
         </dc:subject>
         <xmp:CreateDate>2019-08-28T15:27:15+08:00</xmp:CreateDate>
         <xmp:MetadataDate>2021-02-19T15:21:14+01:00</xmp:MetadataDate>
         <xmp:ModifyDate>2021-02-19T15:21:14+01:00</xmp:ModifyDate>
         <xmp:CreatorTool>Adobe InDesign CC 2015 (Windows)</xmp:CreatorTool>
         <xmpMM:InstanceID>uuid:c32d4d9b-6e89-4dec-8b0c-9ace70520882</xmpMM:InstanceID>
         <xmpMM:OriginalDocumentID>xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe</xmpMM:OriginalDocumentID>
         <xmpMM:DocumentID>xmp.id:6ce305b0-5fc4-dd4f-b528-b46d38308b68</xmpMM:DocumentID>
         <xmpMM:RenditionClass>proof:pdf</xmpMM:RenditionClass>
         <xmpMM:DerivedFrom rdf:parseType="Resource">
            <stRef:instanceID>xmp.iid:78c1c837-b8eb-2b42-84ba-59d460696309</stRef:instanceID>
            <stRef:documentID>xmp.did:62d775fc-0a74-f64d-b027-2069f2421959</stRef:documentID>
            <stRef:originalDocumentID>xmp.did:2aecd8bd-cbd3-4539-b083-9de383973cbe</stRef:originalDocumentID>
            <stRef:renditionClass>default</stRef:renditionClass>
         </xmpMM:DerivedFrom>
         <xmpMM:History>
            <rdf:Seq>
               <rdf:li rdf:parseType="Resource">
                  <stEvt:action>converted</stEvt:action>
                  <stEvt:parameters>from application/x-indesign to application/pdf</stEvt:parameters>
                  <stEvt:softwareAgent>Adobe InDesign CC 2015 (Windows)</stEvt:softwareAgent>
                  <stEvt:changed>/</stEvt:changed>
                  <stEvt:when>2019-08-28T15:27:15+08:00</stEvt:when>
               </rdf:li>
            </rdf:Seq>
         </xmpMM:History>
         <pdf:Producer>Adobe PDF Library 15.0</pdf:Producer>
         <pdf:Trapped>False</pdf:Trapped>
         <pdf:Keywords>whole exome sequencing, MAMLD1, disorders/differences of sex development, hypospadias, phenotype variability, oligogenic disorder</pdf:Keywords>
      </rdf:Description>
   </rdf:RDF>
</x:xmpmeta>
  Checksum: a0bf2dd0
   Type: CRC32
  Checksum: 3372b76bb384733293ccee57b95bbb0f
   Type: MD5
  Checksum: 5edf3b90fda5e38d6630c0e3ab2bfd68ab260af1
   Type: SHA-1