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Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.


Journal article


J Med Genet

Publication Date





507 - 517


Chromosome Aberrations, Chromosome Disorders, Chromosome Mapping, Congenital Abnormalities, Humans, Metabolism, Inborn Errors