db6d464b5d4b6d7f6c225f1392fa9b84 pmc_10558207.pdf 8664c39a1ce0ccbe649f88dcb6ed091f6465a94d pmc_10558207.pdf 83937112e83317bd7470aa8787bd2480c19d90239710e2ad9d14ab6a9a9fe9c3 pmc_10558207.pdf Title: Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort Subject: Background: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Keywords: parathyroid, primary hyperparathyroidism, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 4, cyclin-dependent kinase inhibitors, familial hyperparathyroidism, familial hypocalciuric hypercalcemia Author: Isabel Mazarico-Altisent CreationDate: Mon Sep 18 11:18:59 2023 CEST ModDate: Mon Sep 18 11:19:10 2023 CEST Custom Metadata: no Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 12 Encrypted: no Page size: 595.389 x 841.663 pts (A4) Page rot: 0 File size: 768598 bytes Optimized: yes PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- MCEAAP+AdvTT9b12cd41+22 Type 1C Custom yes yes yes 788 0 MCDPMG+AdvTTd3a5f740 Type 1C WinAnsi yes yes no 771 0 MCDPNG+AdvTTd3a5f740+fb Type 1C Custom yes yes yes 772 0 MCDPPG+AdvTTd3a5f740+01 Type 1C MacRoman yes yes no 773 0 MCDPPH+AdvPSA18C Type 1C WinAnsi yes yes no 774 0 MCDPPI+AdvTT9b12cd41 Type 1C WinAnsi yes yes no 775 0 MCDPPJ+AdvTT9b12cd41+01 Type 1C MacRoman yes yes no 776 0 MCDPPK+AdvPSA323 Type 1C WinAnsi yes yes no 777 0 MCDPPL+AdvTT9b12cd41+20 Type 1C WinAnsi yes yes no 778 0 MCDPPM+AdvTT2c8ce45a Type 1C WinAnsi yes yes no 789 0 MCDPPN+AdvTT9b12cd41+fb Type 1C Custom yes yes yes 790 0 MCDPPO+AdvTTd168d80a.I Type 1C WinAnsi yes yes no 791 0 MCECAD+AdvOT1ef757c0 Type 1C WinAnsi yes yes no 241 0 MCECAE+AdvOT1ef757c0+20 Type 1C WinAnsi yes yes no 236 0 MCECAF+AdvOT1ef757c0+fb Type 1C Custom yes yes yes 229 0 MCECBG+AdvOT7d6df7ab.I Type 1C WinAnsi yes yes no 237 0 MCECDG+AdvOT1ef757c0+22 Type 1C Custom yes yes yes 250 0 MCECDH+AdvOT1ef757c0+01 Type 1C MacRoman yes yes no 253 0 MCECDI+AdvTT58d178b9+03 Type 1C Custom yes yes yes 245 0 MCEDAE+AdvOTd877c31c+20 Type 1C Custom yes yes yes 259 0 MCEDBE+AdvTT749c1f5a.I Type 1C WinAnsi yes yes no 256 0 MCEEIM+AdvTTd3a5f740+20 Type 1C WinAnsi yes yes no 261 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-03-28 02:38:50 CET RepresentationInformation: pmc_10558207.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2024-03-15 02:37:31 CET Size: 768598 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: Linearized PDF PDFMetadata: Objects: 863 FreeObjects: 1 IncrementalUpdates: 1 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort Destination: bmark_142615527 Children: Item: Title: Introduction Destination: s1 Item: Title: Materials and methods Destination: s2 Children: Item: Title: Clinical data collection Destination: s2_1 Item: Title: Gene panel sequencing and variant interpretation Destination: s2_2 Item: Title: Statistical analysis Destination: s2_3 Item: Title: Results Destination: s3 Children: Item: Title: General data Destination: s3_1 Item: Title: CASR variants Destination: s3_2 Item: Title: CDKIs variants Destination: s3_3 Item: Title: TRPV6 variants Destination: s3_4 Item: Title: Clinical data according to genetic test results Destination: s3_5 Item: Title: Discussion Destination: s4 Item: Title: Data availability statement Destination: s5 Item: Title: Ethics statement Destination: s6 Item: Title: Author contributions Destination: s7 Item: Title: Funding Destination: bmark_1865464027 Item: Title: Acknowledgments Destination: bmark_-366698314 Item: Title: References Destination: bmark_2090415954 Info: Title: Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort Author: Isabel Mazarico-Altisent Subject: Background: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. 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947, 854 FontFile3: true Encoding: MacRomanEncoding XMP: application/pdf Isabel Mazarico-Altisent Ismael Capel Neus Baena Maria Rosa Bella-Cueto Santi Barcons Xavier Guirao Rocío Pareja Andreea Muntean Valeria Arsentales Assumpta Caixàs Mercedes Rigla Background: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Copyright © 2023 Mazarico-Altisent, Capel, Baena, Bella-Cueto, Barcons, Guirao, Pareja, Muntean, Arsentales, Caixàs and Rigla. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort parathyroid primary hyperparathyroidism multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 4 cyclin-dependent kinase inhibitors familial hyperparathyroidism familial hypocalciuric hypercalcemia parathyroid, primary hyperparathyroidism, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 4, cyclin-dependent kinase inhibitors, familial hyperparathyroidism, familial hypocalciuric hypercalcemia True https://www.frontiersin.org/legal/copyright-statement 2023-09-18T17:19:10+08:00 2023-09-18T17:18:59+08:00 2023-09-18T17:19:10+08:00 uuid:90ef9b39-0150-48b9-a501-c93c6b594ff6 uuid:8dbcc141-8ead-4f7c-8aba-8f7fab8d7a79 Pages: Page: Label: 1 Annotations: Annotation: Subtype: Link Rect: 222, 666, 478, 687 Annotation: Subtype: Link Rect: 222, 641, 433, 662 Annotation: Subtype: Link Rect: 222, 616, 480, 637 Annotation: Subtype: Link Rect: 222, 591, 433, 612 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