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BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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

Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

BAF200 is essential for proper heart and coronary artery formation.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.

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

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

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

New mutations in the hairless gene may cause hair loss and affect bone development.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

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

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

Specific keratin gene mutations can cause monilethrix.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.