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First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
Danda, Sumita; Datar, Chaitanya; Kher, Archana; Deshpande, Tanmay; Thomas, Maya Mary; Oommen, Samuel P.
Afiliação
  • Danda S; Department of Medical Genetics, Christian Medical College and Hospital, Vellore, India.
  • Datar C; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.
  • Kher A; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.
  • Deshpande T; Department of Paediatrics, Genetics Unit, Bharati Vidyapeeth Medical College and Hospital, Pune, India.
  • Thomas MM; Department of Paediatric Neurology, Christian Medical College and Hospital, Vellore, India.
  • Oommen SP; Department of Developmental Paediatrics, Christian Medical College and Hospital, Vellore, India.
Am J Med Genet A ; 188(8): 2501-2504, 2022 08.
Article em En | MEDLINE | ID: mdl-35596688
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article