Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature-Reference-Cited by-同舟云学术

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

Published:2015-12-24 Issue:4 Volume:170 Page:949-957
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bunyan David J.¹,Baffico Maria²,Capone Lucia³,Vannelli Silvia⁴,Iughetti Lorenzo⁵,Schmitt Sébastien⁶,Taylor Emma-Jane¹,Herridge Adam A.¹,Shears Deborah⁷,Forabosco Antonino³,Coviello Domenico A.²

Affiliation:

1. Wessex Regional Genetics Laboratory; Salisbury District Hospital; Salisbury Wiltshire United Kingdom

2. Laboratory of Human Genetics; E.O. Ospedali Galliera; Genoa Italy

3. Genomic Research Center; Cante di Montevecchio; Fano PU Italy

4. Auxologic Unit; University of Turin; Turin Italy

5. Department of Medical and Surgical Sciences of Mothers, Children, and Adults; University of Modena and Reggio Emilia; Modena MO Italy

6. Laboratory of Molecular Genetics; Institute of Biology; CHU de Nantes; Nantes France

7. Clinical Genetics; Churchill Hospital; Oxford Oxfordshire United Kingdom

Funder

Italian Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference39 articles.

1. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome;Adamson;Clin Endocrinol,2002

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

3. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis;Benito-Sanz;Am J Hum Genet,2005

4. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS);Benito-Sanz;J Clin Endocrinol Metab,2011

5. Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer;Benito-Sanz;J Med Genet,2012

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