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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.

Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.

SRD5A2 gene variations affect PTSD symptoms differently in males and females.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

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

Genetic variations greatly affect individual metabolism and can impact health and disease risk.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

Tanning ability is linked to specific DNA changes in skin genes.

A new method using solid-state circular dichroism anisotropy can distinguish similar chiral compounds better than traditional techniques.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

Portable point-of-care testing can improve quick and accurate genetic disorder detection.

New polymer fibers can produce proteins and have potential uses in masks and swabs.

New mutations in the DSG4 gene cause a rare hair condition.

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

A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.

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

Tortoiseshell tomcats with XX/XY chimerism can be fertile.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

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

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.

PDGFC gene may help select goats with desirable curly wool traits.

Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.