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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.

Mutation in hairless gene may increase hair loss risk.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

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

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

Mutations in the AR gene cause hair thinning and loss.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.

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

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

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

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

A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

A specific gene mutation causes varying hair loss severity in a Pakistani family.