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Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.

Blood vessel patterns in skin diseases relate to certain blood markers in systemic sclerosis but not in psoriasis or psoriatic arthritis, and may indicate circulation issues in alopecia.

Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.

The ACE1 gene variant doesn't affect long-COVID symptoms.

Peanut agglutinin staining helps differentiate malignant melanoma from nevocellular nevus.

A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.