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

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.

Individuals with this condition often develop male traits and identities at puberty despite being raised as females.

Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.

A boy's hair turned red because of genetic mutations, not lack of zinc.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

The condition is linked to chromosome 12, but no mutations were found in the known genes.

Not having enough cystatin M/E protein causes less hair growth and dry skin.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

The man has a genetic skin condition called pachyonychia congenita.

Copper therapy improved health and enzyme activity in mice with copper deficiency.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.

Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.

Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.

21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.