Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof, Gabriela
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. [electronic resource] - American journal of human genetics Sep 2014 - 308-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.08.001 doi
Blotting, Western
Child
Cleft Palate--genetics
DNA-Binding Proteins--genetics
Ectodermal Dysplasia--genetics
Exons--genetics
Female
Genes, Recessive--genetics
Humans
Intellectual Disability--genetics
Male
Mutation--genetics
Pedigree
Phenotype
RNA, Messenger--genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Skin--metabolism
Syndactyly--genetics
Syndrome
Transcription Factors--genetics
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. [electronic resource] - American journal of human genetics Sep 2014 - 308-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.08.001 doi
Blotting, Western
Child
Cleft Palate--genetics
DNA-Binding Proteins--genetics
Ectodermal Dysplasia--genetics
Exons--genetics
Female
Genes, Recessive--genetics
Humans
Intellectual Disability--genetics
Male
Mutation--genetics
Pedigree
Phenotype
RNA, Messenger--genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
Skin--metabolism
Syndactyly--genetics
Syndrome
Transcription Factors--genetics