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.

Afiliação

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 em En | MEDLINE | ID: mdl-36370055

Assuntos

Catarata; Variações do Número de Cópias de DNA; Humanos; Feminino; Linhagem; Inativação do Cromossomo X; Proteínas Nucleares/genética; Proteínas de Membrana/genética; Catarata/genética; Proteínas de Ligação ao Cálcio/genética

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Variações do Número de Cópias de DNA Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

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