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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

The prolactin gene polymorphism doesn't affect cashmere quality in these goats.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

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

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

A new mutation in mice causes crooked whiskers and messy hair.

The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

A rare EGFR mutation in newborns leads to severe health issues and early death.

BLTP1 and KIF27 gene mutations can help breed better wool sheep.

A girl had rickets due to a gene mutation affecting vitamin D response.