Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families-Reference-Cited by-同舟云学术

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Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families

Published:2024-04 Issue: Volume:68 Page:104919
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Tusseau M.,Eyries M.,Chatron N.,Coulet F.,Guichet A.,Colin E.,Demeer B.,Maillard H.,Thevenon J.,Lavigne C.,Saillour V.,Paris C.,De Sainte Agathe J.M.,Pujalte M.,Guilhem A.,Dupuis-Girod S.,Lesca G.

Publisher

Elsevier BV

Reference15 articles.

1. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1;Albiñana;BMC Med. Genet.,2017

2. Sperm studies in heterozygote inversion carriers: a review;Anton;Cytogenet. Genome Res.,2005

3. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations;Balachandar;Am. J. Med. Genet.,2022

4. PRPF4 mutations cause autosomal dominant retinitis pigmentosa;Chen;Hum. Mol. Genet.,2014

5. 5’UTR mutations of ENG cause hereditary hemorrhagic telangiectasia;Damjanovich;Orphanet J. Rare Dis.,2011

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1. Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature;The Cerebellum;2024-07-29

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