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

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, which hydr...

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Detalles Bibliográficos
Autores principales: Lei, Cheng, Guo, Ting, Ding, Shuizi, Liao, Liyan, Peng, Hong, Tan, Zhiping, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963421/
https://www.ncbi.nlm.nih.gov/pubmed/33217155
http://dx.doi.org/10.1002/mgg3.1553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963421/
https://www.ncbi.nlm.nih.gov/pubmed/33217155
http://dx.doi.org/10.1002/mgg3.1553

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