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Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

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

Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.

A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.

Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.

TRPS1 is crucial for bone, kidney, and hair follicle development.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Researchers found a gene mutation responsible for a rare hair loss condition.

Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.

The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.

A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

Hair-thread Tourniquet Syndrome, where hair or thread tightly wraps around a body part, is not rare and requires early detection to prevent serious damage.

Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.

Researchers created a new mouse model for studying scleroderma.

An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

Early diagnosis and treatment of TPP can prevent complications.