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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Two sisters had a rare hair condition without other usual symptoms.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.

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

A specific gene mutation causes different hair defects in Indian monilethrix families.

A new mouse mutation causes skin and hair defects due to a gene change.

The SOSTDC1 gene is crucial for determining sheep wool type.

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.

Myotonic dystrophy may be classified as a segmental progeroid disorder.

A new gene mutation is linked to monilethrix in the studied family.

Laser microdissection helps get DNA from single hair follicles for better forensic analysis.

Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.

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

Specific keratin gene mutations can cause monilethrix.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

Mutations in specific genes cause different types of ectodermal dysplasias.

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.

The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

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

Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.