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Article

An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome.

Mutation research - 31 Oct 2002

Balraj Pauline, Concannon Pat, Jamal Rahman, Beghini Alessandro, Hoe T S, Khoo Alan Soobeng, Volpi Ludovica

Abstract excerpt

Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice...

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Identifiers

PMID: 12379465
DOI: 10.1016/s0027-5107(02)00189-6

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