Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome-Reference-Cited by-同舟云学术

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Published:2014-11 Issue:5 Volume:95 Page:579-583
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lalani Seema R.,Zhang Jing,Schaaf Christian P.,Brown Chester W.,Magoulas Pilar,Tsai Anne Chun-Hui,El-Gharbawy Areeg,Wierenga Klaas J.,Bartholomew Dennis,Fong Chin-To,Barbaro-Dieber Tina,Kukolich Mary K.,Burrage Lindsay C.,Austin Elise,Keller Kory,Pastore Matthew,Fernandez Fabio,Lotze Timothy,Wilfong Angus,Purcarin Gabriela,Zhu Wenmiao,Craigen William J.,McGuire Marianne,Jain Mahim,Cooney Erin,Azamian Mahshid,Bainbridge Matthew N.,Muzny Donna M.,Boerwinkle Eric,Person Richard E.,Niu Zhiyv,Eng Christine M.,Lupski James R.,Gibbs Richard A.,Beaudet Arthur L.,Yang Yaping,Wang Meng C.,Xia Fan

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

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2. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome;Hosoki;Am. J. Med. Genet. A.,2012

3. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases;Brown;Am. J. Med. Genet. A.,2013

4. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes;Rosenfeld;Am. J. Med. Genet. A.,2011

5. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N. Engl. J. Med.,2013

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1. Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder;Neurology Genetics;2024-10

2. PURA and GLUT1: Sweet partners for brain health;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-08

3. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association;eLife;2024-04-24

4. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association;eLife;2024-04-24

5. Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo;Frontiers in Pediatrics;2024-03-28