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Leri-Weill dyschondrosteosis

*Gene map locus Xpter-p22.32, Ypter-p11.2
DCO
Dyschondrosteosis
LWD
Leri-Weill syndrome
Madelung deformity
[Clinical features: deformity of the distal radius and ulna and proximal carpal bones; mesomelic dwarfism]
[Inheritance: autosomal dominant]

Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature
Phenotypes Associated with SHOX Deficiency
A case of dyschondrosteosis from Roman Britain
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism
Journal of Medical Genetics

A case of dyschondrosteosis from Roman Britain
A case of dyschondrosteosis from Roman Britain
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics


 

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Edited by Aldo Campana, February 8, 2010