Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

Abstract Background Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to...

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Bibliographic Details
Main Authors: Liangshan Li, Wenmiao Liu, Yinglei Xu, Miaomiao Li, Qian Tang, Bo Yu, Renmei Cai, Shiguo Liu
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal recessive congenital ichthyosis (ARCI)
genetic analyses
PNPLA1
Sanger sequencing
targeted regions sequencing (TRS)
Online Access:https://doi.org/10.1002/mgg3.1076

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