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A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

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

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

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

The CORIN gene variant causes the golden color in Siberian cats.

New genetic mutations linked to rare skin disorders were found in three newborns.

The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

Hair loss in certain mice is linked to changes in keratin-related genes.

The document concludes that the girl's hairlessness is likely inherited from her parents.

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

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

The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.

New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

A new mouse mutation causes skin and hair defects due to a gene change.

Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.

Standard treatment for congenital erythropoietic porphyria was ineffective over five years.

An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.