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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A unique gene mutation was found in a family with monilethrix.

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

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

A girl had rickets due to a gene mutation affecting vitamin D response.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

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

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

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

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

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Two new gene mutations cause a rare hair disorder.

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

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

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

Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

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

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

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

Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.