Phenotypic and molecular insights into PQBP1 -related intellectual disability-Reference-Cited by-同舟云学术

Phenotypic and molecular insights into PQBP1 -related intellectual disability

Published:2018-09-23 Issue:11 Volume:176 Page:2446-2450
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abdel-Salam Ghada M. H.¹^ORCID,Miyake Noriko²^ORCID,Abdel-Hamid Mohamed S.³,Sayed Inas S. M.⁴,Gadelhak Mohamed I.¹,Ismail Samira I.¹,Aglan Mona S.¹,Afifi Hanan H.¹,Temtamy Samia A.¹,Matsumoto Naomichi²

Affiliation:

1. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

3. Medical Molecular Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

4. Orodental Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40479/fullpdf

Reference11 articles.

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3. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation;Kalscheuer;Nature Genetics,2003

4. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1);Kleefstra;Clinical Genetics,2004

5. Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene;Lubs;Journal of Medical Genetics,2006

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