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The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

The HCR gene contributes to psoriasis risk.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.

A new DSG4 gene mutation causes hair defects in a young girl.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A mutation in the KRT25 gene causes woolly hair and hair loss.

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

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.

A specific gene mutation causes severe skin and nail issues and hair loss.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Inherited color dilution in rabbits is linked to DNA methylation changes.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

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

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Defective nuclear transport may cause gene expression changes in Progeria.

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.