Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
نویسندگان
چکیده
منابع مشابه
Aarskog-Scott syndrome: phenotypic and genetic heterogeneity
Aarskog-Scott syndrome (AAS) is a rare developmental disorder which primarily affects males and has a relative prevalence of 1 in 25,000 in the general population. AAS patients usually present with developmental complications including short stature and facial, skeletal and urogenital anomalies. The spectrum of genotype-phenotype correlations in AAS is unclear and mutations of the FGD1 gene on ...
متن کاملImpairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
We report the characterization of the nuclear localization signal (NLS) of the short stature homeobox gene SHOX. Mutations within the SHOX gene cause Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LD) as well as idiopathic short stature (ISS). Furthermore, haploinsufficiency of SHOX has also been implicated in Turner syndrome. SHOX has been shown to be a cell-type-specific t...
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BACKGROUND The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. METHODS Families were ascertained and clinicall...
متن کاملGenetic and Phenotypic Variation for Flowering Time Genes in Barley (Hordeum vulgare)
Objective: Flowering Time (FT) in cereals controlled by genes that had a main factor on plant development. Methods: Genetic and phenotypic diversity of four flowering time genes (FT2, FT3, FT4, Ppd-H1) in 19 genotypes of cultivated and wild barley was evaluated and a total of 107 alleles were amplified. Genotypes based on days to flowering time and molecular data were grouped into earl...
متن کاملPhenotypic variation in LADD syndrome.
A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phe...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200402