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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Nov 2022

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

Abstract excerpt

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 Chr1: 21880592 (GRCh37) TA->T, paternal heterozygous insertion on Chr1 21894597, 21894598 (GRCh37) G->GC, T->TAA, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36427976
DOI: 10.1016/j.tjog.2022.01.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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