Associated Papers
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Bunyan DJ et al.
American Journal of Medical Genetics. Part A, 2013
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
Falcinelli C et al.
Journal of Medical Genetics, 2002
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.
Rappold GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
SHOX point mutations in dyschondrosteosis.
Huber C et al.
Journal of Medical Genetics, 2001
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