Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer Syndrome

Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this syndrome have been reported thus far although no causative gene has yet been identified. Here, we report two siblings with...

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Udgivet i:Eur J Med Genet
Main Authors: Muthusamy, Babylakshmi, Nguyen, Thong T., Bandari, Aravind K., Basheer, Salah, Selvan, Lakshmi Dhevi N., Chandel, Deepshikha, Manoj, Jesna, Gayen, Srimonta, Seshagiri, Somasekar, Girimaji, Satish Chandra, Pandey, Akhilesh
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6974397/
https://ncbi.nlm.nih.gov/pubmed/30797980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2019.02.007
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