Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
نویسندگان
چکیده
منابع مشابه
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in p...
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Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. We describe an 8 months old Saudi girl, a product of consanguineous parents with unremarkable pre-natal and postnatal history and birth weight 2 kg. She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. G...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddp008