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The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

Two new gene mutations cause a rare hair disorder.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

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

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

Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

Certain genetic variants in keratins increase the risk of tooth decay.

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

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

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

Genetic variants at 20p11 increase baldness risk in Chinese Han people.

ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.

Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.

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

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

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

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

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

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.

A gene mutation in Lama3 is linked to a common type of hair loss.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.