Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Tang, Haiyan; Shi, Xiaoliu; Zhang, Guiying

Tang, Haiyan; Shi, Xiaoliu; Zhang, Guiying.

Afiliación

Tang H; Department of Medical Genetics The Second Xiangya Hospital Central South University Changsha China.
Shi X; Center for Medical Genetics School of Life Sciences Central South University Changsha China.
Zhang G; Department of Medical Genetics The Second Xiangya Hospital Central South University Changsha China.

Clin Case Rep ; 9(12): e05082, 2021 Dec.

Article en En | MEDLINE | ID: mdl-34917360

Palabras clave

CYP4F22; case report; congenital ichthyosis; null mutation; splice site mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2021 Tipo del documento: Article