Associated Papers
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
Clowes V et al.
Human Mutation, 2024
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia.
Mehmood S et al.
Clinical and Experimental Dermatology, 2017
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
Khan AK et al.
Bmc Medical Genetics, 2017
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia.
Li X et al.
Pediatric Dermatology, 2017
Human HOX gene disorders.
Quinonez SC et al.
Molecular Genetics and Metabolism, 2014
Autosomal recessive isolated familial acanthosis nigricans in a Pakistani family due to a homozygous mutation in the insulin receptor gene.
Ahmad S et al.
The British Journal of Dermatology, 2013
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families.
Ali RH et al.
The British Journal of Dermatology, 2013
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.
Farooq M et al.
Human Mutation, 2013
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