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

The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.

Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

The new model helps understand and develop treatments for genetic skin disorders like AEC.

The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

The gene Foxq1, controlled by Hoxc13, is crucial for hair follicle differentiation.

Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.

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

The type of tumor suppressor gene lost affects the behavior of skin cancer.

The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.

Genetic mutations can affect female sexual development, requiring personalized medical care.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.

PCOS involves immune and genetic factors, with key roles for T cells and specific genes.

The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.

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

Targeting ornithine decarboxylase can help prevent skin cancer.

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

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

EDA2R gene linked to hair loss.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.

Finasteride may help reduce symptoms in male Tourette syndrome patients.