Bradley L Griggs Sydney Ladd Amy Decker Barbara R DuPont Alexander Asamoah Anand K Srivastava
10.1038/ejhg.2008.183
Eur J Hum Genet
2009 Jan;17(1):30-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/18854857/
Ectodermal Dysplasia / genetics Edar Receptor / genetics Gene Deletion Intellectual Disability / genetics
Ectodermal Dysplasia / genetics Edar Receptor / genetics Gene Deletion Intellectual Disability / genetics Case Reports Research Support, N.I.H., Extramural ATP-Binding Cassette Transporters / genetics Anodontia / genetics Child Chromosomes, Human, Pair 2 / genetics Chromosomes, Human, Pair 6 / genetics DNA-Binding Proteins / genetics Female Humans Microcephaly / genetics Mutation Phenotype Polymerase Chain Reaction Translocation, Genetic ABCD3 protein, human ATP-Binding Cassette Transporters DNA-Binding Proteins EDAR protein, human Edar Receptor
PMC2605173
18854857
Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus
2009