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

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

DPR can show different hair characteristics, as seen in two brothers with normal hair.

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A unique gene mutation was found in a family with monilethrix.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

A new genetic mutation was found causing hair and eye issues in a boy.

The Hairless gene is crucial for healthy skin and hair growth.

Researchers found a new mutation causing total hair loss from birth.

A child with a rare vitamin D-resistant condition improved with treatment.

Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.

Mutations in the LIPH gene cause woolly hair in a child.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.

Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.

Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Researchers created a mouse model of a type of rickets that does not cause hair loss.