Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (...

Full description

Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Lihong Fan, Pengzhen Jin, Yeqing Qian, Guosong Shen, Xueping Shen, Minyue Dong
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-06-01
Subjects:	postaxial polydactyly whole-exome sequencing bi-allelic variants smoothened genetic counseling
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full