SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication-Reference-Cited by-同舟云学术

SALL4 and NFATC2: Two major actors of interstitial 20q13.2 duplication

Published:2014-03 Issue:4 Volume:57 Page:174-180
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Briand-Suleau A.,Martinovic J.,Tosca L.^ORCID,Tou B.,Brisset S.,Bouligand J.,Delattre V.,Giurgea I.^ORCID,Bachir J.,Folliot P.,Goumy C.,Francannet C.,Guiochon-Mantel A.,Benachi A.,Vermeesch J.,Tachdjian G.,Vago P.,Goossens M.^ORCID,Métay C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference33 articles.

1. Partial trisomy 20q in a newborn with dextrocardia;Addor;Genet Couns,2002

2. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family;Al-Baradie;Am J Hum Genet,2002

3. Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review;Blanc;Am J Med Genet A,2008

4. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism;Borozdin;J Med Genet,2004

5. Multigene deletions on chromosome 20q13.13–-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay;Borozdin;Hum Mutat,2007

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4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017

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