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A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

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

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

Three new types of a skin blistering disease were found, caused by specific gene mutations.

CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

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

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.

The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Antifungal treatment can improve severe skin infections with cutaneous horns.

A rare skin condition causes red and dark patches on the face and limbs.

CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.

Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

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

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

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

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.

Selective breeding caused the unique curly hair in Mangalitza pigs.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

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