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A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

Multiple pilomatrixoma may indicate Turner syndrome.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

PAS III can cause multiple autoimmune diseases with noticeable skin issues.

Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

Lipedematous scalp may have a genetic link and could be associated with psychiatric conditions.

The boy's symptoms suggest a possible new medical condition.

A new gene mutation causes insulin resistance in a girl and her mother.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.

The document reports a rare case of ECCL with a new association with optic disc colobomas.

Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Cantú syndrome may be linked to pituitary adenomas.

Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

Ganser syndrome may result from both organic and psychogenic factors.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.