Irregular bladder smooth muscle actin-gamma 2 expression in ACTG2 mutation-associated Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A case report

Description

ACTG2-Associated Visceral Myopathy With Chronic Intestinal

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle

Variants of the ACTG2 gene correlate with degree of severity and

ACTG2-Associated Visceral Myopathy With Chronic Intestinal

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle

MYL9 deficiency is neonatal lethal in mice due to abnormalities in

A homozygous loss-of-function variant in MYH11 in a case with

PDF) Pseudo-obstruction–inducing ACTG2R257C alters actin

Compound heterozygous variants in MYH11 underlie autosomal

ACTG2-Associated Visceral Myopathy With Chronic Intestinal

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