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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.

A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.

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

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

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

Lipase H is important for hair follicle function and shaping hair fibers.

Woolly hair is a rare genetic condition with no effective treatments.

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.

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.

Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.

Hair examination helps diagnose rare neurological diseases in children.

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.

Two siblings have a rare genetic condition causing curly, coarse hair.

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.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.