A Filipino child with schinzel-giedion syndrome
Acta Medica Philippina
; : 63-67, 2023.
Article
em En
| WPRIM
| ID: wpr-980382
Biblioteca responsável:
WPRO
ABSTRACT
@#Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.
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Índice:
WPRIM
Idioma:
En
Revista:
Acta Medica Philippina
Ano de publicação:
2023
Tipo de documento:
Article