Article
GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2000
Atik T, Güvenç M S, Onay H, Özkinay F, Çoğulu Ö
Abstract excerpt
Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a...
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