A Filipino child with schinzel-giedion syndrome
Acta Medica Philippina
;
: 63-67, 2023.
Article
in English
| 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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Index:
WPRIM (Western Pacific)
Language:
English
Journal:
Acta Medica Philippina
Year:
2023
Type:
Article
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