SHOX Deficiency Phenotypes

Skeletal Deformity Associated with SHOX Deficiency

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the w...

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Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals wit...

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Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals wit...

متن کامل

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term ‘SHOX’ were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2–15% of individuals wit...

متن کامل

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term 'SHOX' were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals wit...

متن کامل

SHOX Deficiency Phenotypes

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منابع مشابه

Skeletal Deformity Associated with SHOX Deficiency

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.

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