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A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.

Studying rare genetic disorders can help us understand and treat common diseases better.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.

Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

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

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

Children's hair loss has many causes and requires careful diagnosis and personalized treatment, including emotional support.

A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.

A new gene mutation linked to a skin condition was found in a Spanish family.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.

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

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