Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations were identified. Maternal heterozygous deletion on Ch...

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Detalhes bibliográficos

Principais autores:	Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2022-11-01
coleção:	Taiwanese Journal of Obstetrics & Gynecology
Assuntos:	ALPL gene Hypophosphatasia Skeletal dysplasia Recurrent fetal anomaly Exome sequencing
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1028455922002923
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