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MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

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

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

A new gene mutation is linked to monilethrix in the studied family.

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

Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.

TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

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

A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.

BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

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

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

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

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.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

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

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

A new mutation in the KRT86 gene causes monilethrix in a Han family.

Ets2 gene is crucial for placental development in mice.

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

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.