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CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.

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

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.

Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Antifungal treatment can improve severe skin infections with cutaneous horns.

Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.

The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

Monilethrix causes different levels of hair loss in family members.

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

Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.

Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.

Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.

The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.

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

A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.

Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Furless male rabbits grew slightly faster and heavier than furred ones, but testosterone levels were not the cause.

Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.

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

Mutations in the KRT85 gene cause hair and nail problems.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.

FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.