A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE
Hum Mutat. 2002 19 (5): 573-4

PMID: 11968094 · DOI:10.1002/humu.9036

MeSH Terms (16)

Abnormalities, Multiple Alleles Base Sequence Female Foot Deformities, Congenital Genes, Homeobox Genitalia Hand Deformities, Congenital Homeodomain Proteins Humans Male Mutation, Missense Pedigree Promoter Regions, Genetic Sequence Deletion Syndrome

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