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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.

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

A(1-7) treatment reduces symptoms of lupus in mice.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

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

HLD10 can include increased body hair and Mongolian spots.

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

Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.

The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.

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

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

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

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

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

New LSS gene variants help understand congenital hypotrichosis 14 better.

Lack of cystatin M/E causes thin hair and dry skin.

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

CDP is crucial for lung and hair follicle cell development.

A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

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