Search Results - "Serigatto, Henrique Regonaschi"
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Monodactyly in a patient with CHARGE syndrome: An additional case report
Published in American journal of medical genetics. Part A (01-06-2024)“…CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and…”
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Journal Article -
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Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review
Published in American journal of medical genetics. Part A (01-10-2023)“…The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and…”
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Journal Article