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

The MTR gene affects wool quality and production in Chinese Merino sheep.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

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

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

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

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Some early COVID-19 mutations in patients predicted future common virus mutations.

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

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

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

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

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

Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.

PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

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

The LMNA mutation affects skin structure even in asymptomatic carriers.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

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

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

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

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

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

SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.

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