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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.

A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

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

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.

The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

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

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.

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

Inflammation may cause nail issues in Cronkhite–Canada Syndrome.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.

Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.

Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.

A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.