Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association

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. The nonran...

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Vydáno v:Mol Syndromol
Hlavní autoři: Moreno, Olga M., Sánchez, Ana I., Herreño, Angélica, Giraldo, Gustavo, Suárez, Fernando, Prieto, Juan Carlos, Clavijo, Ana Shaia, Olaya, Mercedes, Vargas, Yaris, Benítez, Javier, Surallés, Jordi, Rojas, Adriana
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802448/
https://ncbi.nlm.nih.gov/pubmed/33505230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000510910
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