Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?-Reference-Cited by-同舟云学术

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Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Published:2022-01-17 Issue:2 Volume:31 Page:84-90
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Sabir Ataf H.,Singhal Juhi,Man Jessica,Cooper Nicola,Cheung Moira,Irving Melita

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference8 articles.

1. Debunking Occam’s razor: diagnosing multiple genetic diseases in families by whole-exome sequencing.;Balci;Clin Genet,2017

2. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).;El-Bazzal;Eur J Med Genet,2019

3. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.;Farhan;J Med Genet,2015

4. Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.;Gentile;Clin Genet,2019

5. Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.;Gupta;Clin Case Rep,2019

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