GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates-Reference-Cited by-同舟云学术

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

Published:2019-08-30 Issue:10 Volume:138 Page:1183-1200
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ouyang Qing,Kavanaugh Brian C.^ORCID,Joesch-Cohen Lena,Dubois Bethany,Wu Qing,Schmidt Michael,Baytas Ozan^ORCID,Pastore Stephen F.,Harripaul Ricardo,Mishra Sasmita,Hussain Abrar,Kim Katherine H.,Holler-Managan Yolanda F.,Ayub Muhammad,Mir Asif,Vincent John B.^ORCID,Liu Judy S.,Morrow Eric M.^ORCID

Funder

National Institute of Mental Health

Hassenfeld Child Health Innovation Institute

Canadian Institutes of Health Research

Carney Institute for Brain Science/Suna Kıraç Fellowship

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02057-x.pdf

Reference34 articles.

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3. Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK (2015) Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis 38:941–948. https://doi.org/10.1007/s10545-015-9824-x

4. Centers for Disease Control and Prevention (2004) Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment–United States, 2003. MMWR Morb Mortal Wkly Rep 53:57–59

5. Centers for Disease Control and Prevention (2013) Intellectual Disability Among Children. https://www.cdc.gov/ncbddd/developmentaldisabilities/documents/IntellectualDisabilities.pdf . Accessed on 10 Oct 2018

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