Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots-Reference-Cited by-同舟云学术

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

Published:2006-08 Issue:2 Volume:79 Page:409-414
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Benito-Sanz Sara,Gorbenko del Blanco Darya,Huber Céline,Thomas N. Simon,Aza-Carmona Miriam,Bunyan David,Maloney Vivienne,Argente Jesús,Cormier-Daire Valérie,Campos-Barros Ángel,Heath Karen E.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency;Schneider;Am J Hum Genet,2005

2. A second recombination hotspot associated with SHOX deletions;Zinn;Am J Hum Genet,2006

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

4. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism;Thomas;Am J Med Genet A,2004

5. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification;Schouten;Nucleic Acids Res,2002

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