Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family

Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family

Abstract Background Traboulsi syndrome is a rare disorder characterized by ectopia lentis and facial dysmorphism (large beaked nose), which was only reported in 18 individuals to date. It is caused by homozygous/compound heterozygous variants in the aspartate/asparagine‐β‐hydroxylase (ASPH) gene, wh...

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Bibliographic Details
Main Authors: Cheng Lei, Ting Guo, Shuizi Ding, Liyan Liao, Hong Peng, Zhiping Tan, Hong Luo
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ASPH
ectopia lentis
lung bullae
pneumothorax
traboulsi syndrome
ventricular septal defect
Online Access:https://doi.org/10.1002/mgg3.1553

Internet

https://doi.org/10.1002/mgg3.1553

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