Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks-Reference-Cited by-同舟云学术

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Published:2010-08-03 Issue:9 Volume:152A Page:2230-2235
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Reish Orit,Huber Céline,Altarescu Gheona,Chapman-Shimshoni Daphne,Levy-Lahad Ephrat,Renbaum Paul,Mashevich Maya,Munnich Arnold,Cormier-Daire Valérie

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. SHOX mutations in dyschondrosteosis (Léri-Weill syndrome);Belin;Nat Genet,1998

2. The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia;Bertorelli;Clin Genet,2007

3. Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD);Campos-Barros;Am J Med Genet A,2007

4. Enhancer mutations of the SHOX gene as a frequent cause of short stature-The essential role of a 250 kb downstream regulatory domain;Chen;J Med Genet,2009

5. A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development;Cobb;Proc Natl Acad Sci USA,2006

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1. Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients;European Journal of Endocrinology;2014-05

2. A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX;American Journal of Medical Genetics Part A;2011-03-17

3. A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX;American Journal of Medical Genetics Part A;2011-03-15

4. Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis;Journal of Assisted Reproduction and Genetics;2010-12-01