The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome
نویسندگان
چکیده
منابع مشابه
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model BDB in mice, the mutation W749X was engineered into the mouse Ror2 gene. In contrast to the human ...
متن کاملAB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
OBJECTIVE To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN Case report. SETTING University medical center. PATIENT(S) Two Chinese siblings. INTERVENTION(S) Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S) Endocrinologic evaluation and genetic anal...
متن کاملA novel GJA8 mutation causing a recessive triangular cataract
PURPOSE The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts. METHODS Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from surgeries was collected, immediately frozen at -80 degrees C, and used for cDNA production. Blood was taken from the proband and available family mem...
متن کاملA novel keratocan mutation causing autosomal recessive cornea plana.
PURPOSE Mutations in keratocan (KERA), a small leucine-rich proteoglycan, have recently been shown to be responsible for cases of autosomal recessive cornea plana (CNA2). A consanguineous pedigree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and direct sequencing. METHODS Linkage was sought to polymorphic microsatellite markers distributed around...
متن کاملa synchronic and diachronic approach to the change route of address terms in the two recent centuries of persian language
terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Development
سال: 2008
ISSN: 1477-9129,0950-1991
DOI: 10.1242/dev.015149