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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.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

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

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

Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.

Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.

A specific gene variant may increase the risk of developing Alopecia Areata.

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

Deleting TNFα gene reduces skin cancer risk in certain mice.

Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.

A specific gene mutation causes sparse, brittle hair in a family.

Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.

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

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

Mutations in the P2RY5 gene cause hereditary woolly hair.

Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.

Robertsonian translocation can cause recurrent miscarriages.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

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

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.

A specific genetic marker is linked to male pattern baldness in Han Chinese men.

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