SHOX mutations detected by FISH and direct sequencing in patients with short stature.
نویسندگان
چکیده
L Stuppia, G Calabrese, V Gatta, S Pintor, E Morizio, D Fantasia, P Guanciali Franchi, M M Rinaldi, G Scarano, D Concolino, A Giannotti, F Petreschi, M T Anzellotti, M Pomilio, F Chiarelli, S Tumini, G Palka . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
OBJECTIVE The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion. METHODS Microsatellite markers (MSMs) D...
متن کاملScreening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature
Purpose Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with sho...
متن کاملCytogenetic and Molecular Genetic Characterization of Children with Short Stature
BACKGROUND The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations i...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Journal of medical genetics
دوره 40 2 شماره
صفحات -
تاریخ انتشار 2003