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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

SQSTM1 is linked to increased risk of alopecia areata.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

Gut bacteria overgrowth may cause some Post-Finasteride Syndrome symptoms.

Gut bacteria overgrowth may cause some Post-Finasteride Syndrome symptoms.

CARASIL can cause different symptoms even with the same genetic mutation.

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

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

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.

Satoyoshi syndrome can occur without causing premature ovarian failure.

Improved nutrition quickly healed the patient's skin lesions.

Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.

RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.