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

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

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

Specific keratin gene mutations can cause monilethrix.

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

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

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

Mutations in the SNRPE gene cause hereditary hair loss.

A specific gene mutation causes different hair defects in Indian monilethrix families.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

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

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A gene mutation causes monilethrix in a Chinese family.