Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis
نویسندگان
چکیده
منابع مشابه
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical signaling gene WNT5A underlie a subset of autosomal-dominant Robinow syndrome (DRS) cases, but most ...
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We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 pos...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2019
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddz071