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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A specific gene mutation causes Olmsted syndrome.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

A rare EGFR mutation in newborns leads to severe health issues and early death.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

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

New genetic mutations causing hair loss were found in a Chinese family.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.

A specific gene mutation causes long hair in Angora rabbits.

Researchers found a new mutation causing total hair loss from birth.

Specific keratin gene mutations can cause monilethrix.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

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

The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

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

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

A specific gene mutation causes congenital hair loss.

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

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