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Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

L-PGDS has specific binding sites for its functions and could help in drug delivery system design.

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

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

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

GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.

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

A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.

AGD1's PH domain is essential for its role in root hair growth and polarity.

Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.

Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

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

The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.

SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.

DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.

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.

The Gsdma3 gene is essential for normal hair development in mice.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.

Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.

Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.