New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Fetal Diagnosis and Therapy

Volumn 38, Issue 4, 2015, Pages 296-306

  Tuzovic, Lea ^a   Tang, Sha ^b   Miller, Russell S ^a   Rohena, Luis ^a   Shahmirzadi, Layla ^b   Gonzalez, Kelly ^b   Li, Xiang ^b   Leduc, Charles A ^a   Guo, Jiancheng ^a   Wilson, Ashley ^a   Mills, Ashley ^a   Glassberg, Kenneth ^a   Rotterdam, Heidi ^a   Sepulveda, Antonia R ^a   Zeng, Wenqi ^b   Chung, Wendy K ^a   Anyane Yeboa, Kwame ^a  

^a NewYork Presbyterian Hospital   (United States)

^b AMBRY GENETICS   (United States)

Author keywords

? 2 smooth muscle actin; ACTG2; Berdon syndrome; Fetal megacystis; Gonadal mosaicism; Megacystis microcolon intestinal hypoperistalsis syndrome; Prenatal diagnosis

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; ACTG2 PROTEIN, HUMAN; ACTIN;

AMNION FLUID; ARTICLE; CASE REPORT; FEMALE; FETUS; FETUS DISEASE; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HYDRONEPHROSIS; IMMUNOHISTOCHEMISTRY; INTESTINAL TISSUE; INTESTINE OBSTRUCTION; MALE; MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES; ADULT; BLADDER; COLON; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; DUODENUM; ECHOGRAPHY; GENETICS; INTESTINE PSEUDOOBSTRUCTION; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ALIGNMENT; SMALL INTESTINE;

ABNORMALITIES, MULTIPLE; ACTINS; ADULT; COLON; DNA MUTATIONAL ANALYSIS; DUODENUM; FEMALE; FETAL DISEASES; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; INTESTINE, SMALL; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ALIGNMENT; ULTRASONOGRAPHY; URINARY BLADDER;

EID: 84951908440     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000381638     Document Type: Article

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