Article
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Human mutation - 1 Sept 2008
Marcelis Carlo L M, Hol Frans A, Graham Gail E, Rieu Paul N M A, Kellermayer Richard, Meijer Rowdy P P, Lugtenberg Dorien, Scheffer Hans, van Bokhoven Hans, Brunner Han G, de Brouwer Arjan P M
Abstract excerpt
Feingold syndrome (FS) is the most frequent cause of familial syndromic gastrointestinal atresia and follows autosomal dominant inheritance. FS is caused by germline mutations in or deletions of the MYCN gene. Previously, 12 different heterozygous MYCN mutations and two deletions containing multiple genes including MYCN were described. All these mutations result in haploinsufficiency of both the canonical MYCN...
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