Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with...

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Detalles Bibliográficos
Autores principales: Gupta, Aditi, Ewing, Sarah A., Renaud, Deborah L., Hasadsri, Linda, Raymond, Kimiyo M., Klee, Eric W., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452521/
https://www.ncbi.nlm.nih.gov/pubmed/30997052
http://dx.doi.org/10.1002/ccr3.2010
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author Gupta, Aditi
Ewing, Sarah A.
Renaud, Deborah L.
Hasadsri, Linda
Raymond, Kimiyo M.
Klee, Eric W.
Gavrilova, Ralitza H.
author_facet Gupta, Aditi
Ewing, Sarah A.
Renaud, Deborah L.
Hasadsri, Linda
Raymond, Kimiyo M.
Klee, Eric W.
Gavrilova, Ralitza H.
author_sort Gupta, Aditi
collection PubMed
description We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.
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spelling pubmed-64525212019-04-17 Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants Gupta, Aditi Ewing, Sarah A. Renaud, Deborah L. Hasadsri, Linda Raymond, Kimiyo M. Klee, Eric W. Gavrilova, Ralitza H. Clin Case Rep Case Reports We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway. John Wiley and Sons Inc. 2019-02-19 /pmc/articles/PMC6452521/ /pubmed/30997052 http://dx.doi.org/10.1002/ccr3.2010 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Gupta, Aditi
Ewing, Sarah A.
Renaud, Deborah L.
Hasadsri, Linda
Raymond, Kimiyo M.
Klee, Eric W.
Gavrilova, Ralitza H.
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title_full Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title_fullStr Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title_full_unstemmed Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title_short Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
title_sort developmental delay, coarse facial features, and epilepsy in a patient with ext2 gene variants
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452521/
https://www.ncbi.nlm.nih.gov/pubmed/30997052
http://dx.doi.org/10.1002/ccr3.2010
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