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.

Affiliation

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 de En | MEDLINE | ID: mdl-37507637

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Syndrome de Goldenhar Type d'étude: Diagnostic_studies Limites: Humans Langue: En Journal: Front Med Année: 2023 Type de document: Article Pays d'affiliation: Chine

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