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A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Two new gene mutations cause a rare hair disorder.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.

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Some patients fail bladder function tests due to lower flow rates and higher remaining urine volumes, but the exact reasons for failure are unclear.

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

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

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The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.

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

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Finasteride helps female-pattern hair loss.

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A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

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A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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