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Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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

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

A mutation in the VDR gene affects hair cycling without needing ligand binding.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

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

The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.

Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.

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

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.

A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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

Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.

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

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

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

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

Mutations in the KRT85 gene cause hair and nail problems.