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Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

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

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

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

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

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

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

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

A specific gene mutation causes a severe skin disorder in a family.

A new mouse mutation causes skin and hair defects due to a gene change.

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

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

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

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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

The scraggly mutation causes hair loss and skin defects in mice.

New mutations in the DSG4 gene cause a rare hair condition.

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

Two new gene mutations cause a rare hair disorder.

A specific genetic variation affects wool quality in sheep.

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

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

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