Diagnostic screening identifies a wide range of mutations involving theSHOXgene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

(2012) Juliette Albuisson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events

(2012) Shriparna Sarbajna et al.   HUMAN MOLECULAR GENETICS

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

(2012) Sara Benito-Sanz et al.   JOURNAL OF MEDICAL GENETICS

Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

(2010) S. Benito-Sanz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

(2009) N. Simon Thomas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enhancer elements upstream of the SHOX gene are active in the developing limb

(2009) Claudia Durand et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

(2009) J Chen et al.   JOURNAL OF MEDICAL GENETICS

Human branch point consensus sequence is yUnAy

(2008) Kaiping Gao et al.   NUCLEIC ACIDS RESEARCH