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TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.

Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

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

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.

Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

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.

A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

A girl had rickets due to a gene mutation affecting vitamin D response.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.

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.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

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

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

Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.

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