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The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

LSD1 is essential for healthy skin development and creating the skin's protective barrier.

About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.

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

Targeting LGR4 may help treat cancer by reducing cancer stem cell traits and drug resistance.

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

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

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

New LSS gene variants help understand congenital hypotrichosis 14 better.

Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.

The lentiviral array can monitor and predict gene activity during stem cell differentiation.

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

The LMNA mutation affects skin structure even in asymptomatic carriers.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

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

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

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

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

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

CDP is crucial for lung and hair follicle cell development.

A mutation in the Sgkl gene causes defective hair growth in mice.

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

CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.

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

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.

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