Discover the role of genetic testing in diagnosing Wieacker-Wolff Syndrome, a rare neuromuscular disorder. Learn about ZC4H2 gene mutations, severity assessment, and management…
Discover the rare genetic condition Woolly Hair, Autosomal Recessive 2, its diagnosis, and the crucial role of genetic testing in understanding and managing this hair disorder.
Intellectual disability, growth failure and epilepsy in males can follow mutations in UBE2A, ATRX, KDM5C or CLCN4; carrier and prenatal testing are described here.
A shortage of catalase lets hydrogen peroxide build up, which can bring oral ulcers and gangrene; many people have no symptoms, and CAT gene sequencing is covered.
Bleeding from a ruptured vessel raises pressure inside the skull and has proved hard to treat; whole genome sequencing is being studied for prognostic biomarkers.
Several foci within one breast quadrant and higher Ki-67 indices set multifocal breast carcinoma apart; whole genome sequencing and immunostaining are explained.
Slow-growing clusters of abnormal veins cause pain, swelling and functional impairment; one study identified ACTA2 as a key contributor to how they form.
Biallelic WDR1 mutations disturb neutrophil function, causing recurrent infections, mild neutropenia, impaired wound healing and severe stomatitis with oral stenosis.