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Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.

PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.

MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.

Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.

A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.

Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.

A rare case of a transplant patient developing a skin condition linked to HPV-49.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.

A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.

A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.

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.

Keratin mutations cause skin diseases and could lead to new treatments.

Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.

MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

p63 and p73 regulate the vitamin D receptor, affecting cancer cell behavior and vitamin D sensitivity.

The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.

Defects in certain proteins cause major heart abnormalities during early development.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

Seven genes are highly expressed in both germ-line and hematopoietic stem cells.