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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.

Young Indian women with PCOS have a higher risk of heart disease, not linked to thyroid function but to higher levels of certain fats and homocysteine.

FOXN1 duplication can cause excessive hair growth.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.

Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.

Higher bad cholesterol levels are linked to more severe female pattern hair loss.

A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

A unique gene mutation was found in a family with monilethrix.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.

Fatty acid transport protein 4 is essential for skin and hair development.

The condition is likely inherited in an autosomal-dominant pattern.

A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.