Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

• Príomhchruthaitheoirí: Shu-Han You (Údar), Chia-Lung Tsai (Údar), Chih-Peng Lin (Údar), Shuenn-Dyh Chang (Údar), Yao-Lung Chang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Elsevier, 2022-11-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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...