Síndrome de Arboleda-Tham causado por nova variante genética

We report the case of a 10-year-old boy followed since birth due to a polymalformative syndrome, including congenital cardiac disease, microcephaly, failure to thrive, trunk hypotonia and hypertonia of the extremities. With time, chief complaints were developmental delay and absence of expressive la...

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Podrobná bibliografie
Hlavní autoři: Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos
Médium: Článek
Jazyk:English
Vydáno: Sociedade Brasileira de Pediatria 2023-12-01
Edice:Residência Pediátrica
Témata:
On-line přístup:https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v13n4e761.pdf