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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.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

Hoxc13 regulates specific hair protein genes on mouse chromosome 16.

Only one K16 gene on chromosome 17 makes a functional keratin protein.

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

Hairless protein helps control hair growth by regulating vitamin D receptor activity.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

A new mouse mutation causes skin and hair issues, influenced by another gene.

Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.

The hairless gene is crucial for hair health, and its mutations cause hair loss.

CD98hc's role in skin health decreases with age.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

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

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

CUX1 boosts sheep hair cell growth and affects curl patterns.

pCLCA2 protein may help maintain skin structure and function.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.

A specific gene variant may increase the risk of developing Alopecia Areata.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.

The Engrailed-1 gene plays a key role in the development of sweat glands in mice.