research A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
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5 / 336 resultsresearch Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research A Frameshift Mutation in HTRA1 Expands CARASIL Syndrome and Peripheral Small Arterial Disease to the Chinese Population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
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