Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.

Si, Nuo; Zhan, Guoqin; Meng, Xiaolu; Zhang, Zeya; Huang, Xin; Pan, Bo

Si, Nuo; Zhan, Guoqin; Meng, Xiaolu; Zhang, Zeya; Huang, Xin; Pan, Bo.

Afiliação

Si N; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.
Zhan G; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.
Meng X; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.
Zhang Z; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.
Huang X; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China.
Pan B; Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100043, China. 13810855912@163.com.

Front Med ; 17(5): 1006-1009, 2023 Oct.

Article em En | MEDLINE | ID: mdl-37507637

Assuntos

Síndrome de Goldenhar; Humanos; Fenótipo; Mutação; Proteínas de Ligação a DNA/genética; Proteínas Tirosina Fosfatases/genética; Fatores de Alongamento de Peptídeos/genética; Ribonucleoproteína Nuclear Pequena U5/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Goldenhar Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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