Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

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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Bibliographic Details
Main Authors: Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
ALPL gene
Hypophosphatasia
Skeletal dysplasia
Recurrent fetal anomaly
Exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455922002923

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