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

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 (...

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Bibliographic Details
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
Series:Frontiers in Genetics
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

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full

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