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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.

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