A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation inFIBPgene-Reference-Cited by-同舟云学术

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation inFIBPgene

Published:2016-05-17 Issue:8 Volume:170 Page:2111-2118
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Akawi Nadia¹,Ben-Salem Salma¹,Lahti Laura²,Partanen Juha²,Ali Bassam R.²,Al-Gazali Lihadh³

Affiliation:

1. Department of Pathology; College of Medicine and Health Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

2. Department of Biosciences; University of Helsinki; Helsinki Finland

3. Department of Paediatrics, College of Medicine and Health Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

Funder

United Arab Emirates University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. National growth charts for the United Arab Emirates;Abdulrazzaq;J Epidemiol,2008

2. LINS, a modulator of the WNT signaling pathway, is involved in human cognition;Akawi;Orphanet J Rare Dis,2013

3. Mutations of a country: A mutation review of single gene disorders in the United Arab Emirates (UAE);Al-Gazali;Hum Mutat,2010

4. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility;Astuti;Nat Genet,2012

5. The physical basis of FGFR3 response to fgf1 and fgf2;Chen;Biochemistry,2011

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