Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.

Zhuang, Jianlong; Luo, Qi; Xie, Meihua; Chen, Yu'e; Jiang, Yuying; Zeng, Shuhong; Wang, Yuanbai; Xie, Yingjun; Chen, Chunnuan

Zhuang, Jianlong; Luo, Qi; Xie, Meihua; Chen, Yu'e; Jiang, Yuying; Zeng, Shuhong; Wang, Yuanbai; Xie, Yingjun; Chen, Chunnuan.

Afiliação

Zhuang J; Center for Prenatal Diagnosis, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, China.
Luo Q; Department of Public Health for Women and Children, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian, China.
Xie M; Prenatal Diagnosis Center, Yueyang Central Hospital, Yueyang, China.
Chen Y; Ultrasonography, Quanzhou Women's and Children's Hospital, Quanzhou, China.
Jiang Y; Center for Prenatal Diagnosis, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, China.
Zeng S; Center for Prenatal Diagnosis, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, China.
Wang Y; Center for Prenatal Diagnosis, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, China.
Xie Y; Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.
Chen C; Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.

Mol Genet Genomic Med ; 11(3): e2121, 2023 03.

Article em En | MEDLINE | ID: mdl-36504312

Assuntos

Anormalidades Múltiplas; Aborto Habitual; Nevo; Neoplasias Cutâneas; Adulto; Feminino; Humanos; Lactente; Masculino; Gravidez; 3-Hidroxiesteroide Desidrogenases/genética; Anormalidades Múltiplas/genética; Sequenciamento do Exoma; Mutação; Nevo/genética; Evolução Fatal; Resultado da Gravidez

Palavras-chave

CHILD syndrome; NSDHL gene; chromosomal microarray analysis; recurrent spontaneous abortion; whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Anormalidades Múltiplas / Aborto Habitual / Nevo Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans / Infant / Male / Pregnancy Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

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