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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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

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

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

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.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

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

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

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

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

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Certain genetic markers may increase or decrease prostate cancer risk.

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 rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.

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

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

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.

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

A new DSG4 gene mutation causes hair defects in a young girl.