Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation.

Huang, Yazhou; Ma, Linya; Zhang, Zhaoxia; Nie, Shujuan; Zhou, Yuan; Zhang, Jibo; Wang, Chao; Fang, Xingxin; Quan, Yingting; He, Ting; Liu, Anhui; Peng, Dan

Huang, Yazhou; Ma, Linya; Zhang, Zhaoxia; Nie, Shujuan; Zhou, Yuan; Zhang, Jibo; Wang, Chao; Fang, Xingxin; Quan, Yingting; He, Ting; Liu, Anhui; Peng, Dan.

Afiliación

Huang Y; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Ma L; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Zhang Z; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Nie S; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Zhou Y; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Zhang J; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Wang C; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Fang X; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Quan Y; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
He T; Department of Medical Genetics, Changde First People's Hospital, Changde, China.
Liu A; Affiliated Hospital of Changde City, University of South China, Hengyang, China.
Peng D; Department of Medical Genetics, Changde First People's Hospital, Changde, China.

Mol Genet Genomic Med ; 11(2): e2100, 2023 02.

Article en En | MEDLINE | ID: mdl-36370055

Asunto(s)

Catarata; Variaciones en el Número de Copia de ADN; Humanos; Femenino; Linaje; Inactivación del Cromosoma X; Proteínas Nucleares/genética; Proteínas de la Membrana/genética; Catarata/genética; Proteínas de Unión al Calcio/genética

Palabras clave

Nance-Horan syndrome; X chromosome inactivation; copy number variation sequencing; dense congenital cataracts; genetic counseling

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Variaciones en el Número de Copia de ADN Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: China

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