Biallelic variants in PAX3 cause Klein syndrome.

Salah, Somaya; Meiner, Vardiella; Abumayaleh, Abdelrazzaq; Asafra, Ali; Al-Sharif, Taher; Al-Fallah, Orwa; Hasasneh, Belal; Zlotogora, Joël

Salah, Somaya; Meiner, Vardiella; Abumayaleh, Abdelrazzaq; Asafra, Ali; Al-Sharif, Taher; Al-Fallah, Orwa; Hasasneh, Belal; Zlotogora, Joël.

Afiliação

Salah S; Department of Genetics, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
Meiner V; Genetic Unit, Palestine Red Crescent Society Hospital, Hebron, Palestine.
Abumayaleh A; Paediatric Department, Palestine Red Crescent Society Hospital, Hebron, Palestine.
Asafra A; Department of Genetics, Hadassah Medical Center and the Hebrew University, Jerusalem, Israel.
Al-Sharif T; Paediatric Department, Palestine Red Crescent Society Hospital, Hebron, Palestine.
Al-Fallah O; Paediatric Department, Palestine Red Crescent Society Hospital, Hebron, Palestine.
Hasasneh B; Paediatric Department, Al Ahli Hospital, Hebron, Palestine.
Zlotogora J; Radiology Department, Al Ahli Hospital, Hebron, Palestine.

Clin Genet ; 102(3): 223-227, 2022 09.

Article em En | MEDLINE | ID: mdl-35607853

Assuntos

Fator de Transcrição PAX3; Síndrome de Waardenburg; Criança; Heterozigoto; Humanos; Fator de Transcrição PAX3/genética; Linhagem; Síndrome de Waardenburg/diagnóstico; Síndrome de Waardenburg/genética

Palavras-chave

Klein syndrome; Waardenburg syndrome; deafness; joint limitations; pigmentary defects

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Fator de Transcrição PAX3 Tipo de estudo: Diagnostic_studies Limite: Child / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Israel

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