A Filipino child with schinzel-giedion syndrome
Acta Medica Philippina
;
: 63-67, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-980382
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 (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2023
Tipo de documento:
Artigo
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