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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

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

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

FoxN1 overexpression in young mice harms immune cell and skin development.

New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

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

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.