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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

Normal skin results from interactions between EGF and the Tabby mutation.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A new gene mutation causes insulin resistance in a girl and her mother.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

A rare gene variant causes hair and nail issues in a family.

A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

A gene deletion causes the "hairless" trait in Iffa Credo rats.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.