TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

Abstract Introduction Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection of skeletal dysplasia causing mutati...

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Main Authors: Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii, Mohammad Reza Moradi, Reza Pazhoomand, Shima Farrokhi, Masoumeh Heidari Feizabadi, Farzaneh Alizadeh, Majid Mojarrad
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Human Genomics
Subjects:
Skeletal dysplasia
Novel gene
Whole exome sequencing
Gene discovery
Online Access:https://doi.org/10.1186/s40246-021-00343-2

Internet

https://doi.org/10.1186/s40246-021-00343-2

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