Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia.

You, Shu-Han; Tsai, Chia-Lung; Lin, Chih-Peng; Chang, Shuenn-Dyh; Chang, Yao-Lung

You, Shu-Han; Tsai, Chia-Lung; Lin, Chih-Peng; Chang, Shuenn-Dyh; Chang, Yao-Lung.

Afiliação

You SH; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, Taiwan. Electronic address: b9302029@cgmh.org.tw.
Tsai CL; Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
Lin CP; Department of Biotechnology, Min-Chuan University, Tao-Yuan, Taiwan; Bioinformatics Division, Yourgene Bioscience Inc., New Taipei City, Taiwan.
Chang SD; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, Taiwan.
Chang YL; Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-kou, Tao-Yuan, Taiwan.

Taiwan J Obstet Gynecol ; 61(6): 1065-1068, 2022 Nov.

Article em En | MEDLINE | ID: mdl-36427976

Assuntos

Hipofosfatasia; Gravidez; Feminino; Humanos; Hibridização Genômica Comparativa; Diagnóstico Pré-Natal; Feto; Mutação; Fosfatase Alcalina

Palavras-chave

ALPL gene; Exome sequencing; Hypophosphatasia; Recurrent fetal anomaly; Skeletal dysplasia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipofosfatasia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hipofosfatasia Idioma: En Ano de publicação: 2022 Tipo de documento: Article