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A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Zinc supplements improved the girl's skin and hair condition.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.

The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.

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

Dupilumab significantly improved a 5-year-old girl's prurigo nodularis without side effects.

TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

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

Lambertianic acid helps prevent muscle wasting.

New mutations in the hairless gene may cause hair loss and affect bone development.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.

Lack of cystatin M/E causes thin hair and dry skin.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.

Mutations in the KRT85 gene cause hair and nail problems.

The ZIP13 variant is linked to abnormal hair quality.

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

Dupilumab is effective and safe for treating moderate-to-severe atopic dermatitis in adolescents.

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.