Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease.

Huang, Jiaming; Zhou, Danli; Dong, Nan; Ding, Chenzhao; Liu, Yan; Li, Fangping

Huang, Jiaming; Zhou, Danli; Dong, Nan; Ding, Chenzhao; Liu, Yan; Li, Fangping.

Afiliação

Huang J; Department of Endocrinology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Zhou D; Department of Endocrinology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Dong N; Department of Scientific Research Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Ding C; Department of Endocrinology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Liu Y; Department of Scientific Research Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
Li F; Department of Endocrinology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.

Front Genet ; 13: 845016, 2022.

Article em En | MEDLINE | ID: mdl-36110215

Palavras-chave

17a-hydroxylase/17; 20-lyase deficiency; CNOT3 gene; CYP17A1 gene; HLA-DRB1 gene; PCNT gene; moyamoya disease

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China