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13 p, 453.4 KB Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association / Moreno, Olga M. (Pontificia Universidad Javeriana) ; Sanchez, Ana I. (Centro Medico Imbanaco de Cali) ; Herreño, Angélica (Pontificia Universidad Javeriana) ; Giraldo, Gustavo (Pontificia Universidad Javeriana) ; Suarez, Fernando (Hospital Universitario de San Ignacio) ; Prieto, Juan Carlos (Pontificia Universidad Javeriana) ; Clavijo, Ana Shaia (Pontificia Universidad Javeriana) ; Olaya, Mercedes (Hospital Universitario de San Ignacio) ; Vargas, Yaris (Hospital Universitario de San Ignacio) ; Benítez, Javier (CNIO: Centro Nacional de Investigaciones Oncologicas) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Rojas, Adriana (Pontificia Universidad Javeriana) ; Universitat Autònoma de Barcelona
VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. [...]
2020 - 10.1159/000510910
Molecular Syndromology, Vol. 11 Núm. 5-6 (december 2020) , p. 271-283  
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1 Clavijo, Ana Shaia
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