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A new DSG4 gene mutation causes hair defects in a young girl.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

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

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

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

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

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

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

A specific gene mutation causes sparse, brittle hair in a family.

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

A mutation in the Sgkl gene causes defective hair growth in mice.

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

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

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

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A new gene mutation causes insulin resistance in a girl and her mother.

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

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

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

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

A specific gene mutation causes woolly hair and hair loss.

A new gene mutation is linked to monilethrix in the studied family.

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