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Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Mutations in keratin genes cause cell fragility and various skin disorders.

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A mouse gene mutation increases the risk of skin cancer.

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

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

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

CXCR2 in skin cells promotes tumor growth.

Severe CCCA may be biologically and clinically different from milder forms.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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

A certain gene variation can affect protein production and is linked to male pattern baldness.