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

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.

The same gene mutation can cause different symptoms in family members.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

PP2Acα is essential for proper hair and skin development.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A boy's hair turned red because of genetic mutations, not lack of zinc.

A new gene mutation linked to a skin condition was found in a Spanish family.

A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

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

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

Deleting part of a gene in mice causes wavy hair and high pup loss.

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

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

Hair loss gene found on chromosome 3q26.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.

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

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

Msx2 deficiency in mice leads to bone growth and organ development problems.

Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.