نتایج جستجو برای: microcolon
تعداد نتایج: 82 فیلتر نتایج به سال:
OBJECTIVE To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>...
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin γ-2 (ACTG2) gene have been recently identified. To investigate the mechanism by which ACTG2 variants lead to MMIHS, we screened a cohort of eleven MMIHS patients, eight sporadic and three familial cases, and performed immunoh...
Transient hyperinsulinism (HI) has been reported in infants born to mothers with diabetes mellitus, in infants subjected to perinatal asphyxia, or intrauterine growth restriction, in those born with Beckwith-Weidemann syndrome (BWS), and in those with rhesus haemolytic disease. The aetiology and mechanisms that underlie transient HI in some of these conditions remain poorly understood. Little i...
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of th...
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