Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
نویسندگان
چکیده
منابع مشابه
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...
متن کاملOral manifestations in a boy with X-linked reticulate pigmentary disorder
Case report A 3-year-old boy was seen at the Department of Maxillo-Facial Surgery and Paediatric Dentistry of the Children’s Hospital of Trieste. The multi-systemic features of XLPDR included a number of oro-dental manifestations such as misshapen teeth, scissor bite, swallowing difficulties, agenesis of the 4 permanent second premolars, taurodontism, early resorption of deciduous roots, and pr...
متن کاملthe effect of vocabulary instruction through semantic mapping on learning and recall of efl learners
چکیده ندارد.
15 صفحه اولClinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universal...
متن کاملMapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.
Genetic linkage studies have implicated at least two loci for X-linked retinitis pigmentosa (XLRP) on proximal Xp. We now report a defined genetic localization for the RP2 locus to a 5-cM interval in Xp11.3-11.23. Haplotype analysis of polymorphic markers in recombinant individuals from two XLRP families has enabled us to identify DXS8083 and DXS6616 as the new distal and proximal flanking mark...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2008
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-008-0498-4