Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia

Clin Exp Dermatol. 2017 Jul;42(5):585-589. doi: 10.1111/ced.13115. Epub 2017 May 22.

Authors

S Mehmood¹, S I Raza¹, H Van Bokhoven², W Ahmad¹

Affiliations

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
² Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

PMID: 28543635
DOI: 10.1111/ced.13115

No abstract available

MeSH terms

Alopecia / genetics*
Ectodermal Dysplasia / genetics*
Female
Genes, Recessive*
Homeodomain Proteins / genetics*
Humans
Male
Mutation*
Nail Diseases / genetics*
Nails / pathology
Pakistan
Pedigree

Substances

HOXC13 protein, human
Homeodomain Proteins