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

Aditi Gupta; Sarah A. Ewing; Deborah L. Renaud; Linda Hasadsri; Kimiyo M. Raymond; Eric W. Klee; Ralitza H. Gavrilova

doi:10.1002/ccr3.2010

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

Aditi Gupta
, Sarah A. Ewing
, Deborah L. Renaud
, Linda Hasadsri
, Kimiyo M. Raymond
, Eric W. Klee^*
, Ralitza H. Gavrilova

^*Corresponding author for this work

Department of Reproductive Science, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	632-637
Number of pages	6
Journal	Clinical Case Reports
Volume	7
Issue number	4
DOIs	https://doi.org/10.1002/ccr3.2010
Publication status	Published - 04-2019

All Science Journal Classification (ASJC) codes

General Medicine

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10.1002/ccr3.2010

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abstract = "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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AU - Renaud, Deborah L.

AU - Hasadsri, Linda

AU - Raymond, Kimiyo M.

AU - Klee, Eric W.

AU - Gavrilova, Ralitza H.

PY - 2019/4

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

Abstract

All Science Journal Classification (ASJC) codes

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