منابع مشابه
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...
متن کاملY-chromosome microdeletions are not associated with SHOX haploinsufficiency.
STUDY QUESTION Are Y-chromosome microdeletions associated with SHOX haploinsufficiency, thus representing a risk of skeletal anomalies for the carriers and their male descendents? SUMMARY ANSWER The present study shows that SHOX haploinsufficiency is unlikely to be associated with Y-chromosome microdeletions. WHAT IS KNOWN ALREADY Y-chromosome microdeletions are not commonly known as a majo...
متن کاملIs Childhood Obesity Associated with Iron Deficiency Anemia?
Background: The prevalence of obesity is increasing and many countries are struggling with its high rate and serious complications. As a result of distinct diet in obese children, they may be susceptible to nutritional deficiencies in particular, iron deficiency. This study aimed to examine the relationship between obesity and iron indices. Methods: In this cross-sectional study, 206 element...
متن کاملShort 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 کاملShort 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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ژورنال
عنوان ژورنال: Journal of Clinical Endocrinology & Metabolism
سال: 2001
ISSN: 0021-972X
DOI: 10.1210/jc.86.12.5674