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

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Mutations in the SNRPE gene cause hereditary hair loss.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

The scraggly mutation causes hair loss and skin defects in mice.

Researchers found a non-functional sheep keratin gene due to mutations.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.

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

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.

Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.

A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

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

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

A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

The naked mutation in mice causes hair loss and helps identify keratin genes.

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