1.
Acta Medica Philippina
;
: 63-67, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-980382
RESUMO
@#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.