A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

European Journal of Human Genetics

Volumn 23, Issue 9, 2015, Pages 1266-1268

  Gauthier, Julie ^a   Ouled Amar Bencheikh, Bouchra ^b   Hamdan, Fadi F ^a   Harrison, Steven M ^c   Baker, Linda A ^c,d   Couture, Françoise ^a   Thiffault, Isabelle ^a   Ouazzani, Reda ^e   Samuels, Mark E ^a,f   Mitchell, Grant A ^a   Rouleau, Guy A ^a,b   Michaud, Jacques L ^a   Soucy, Jean François ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF TEXAS AT DALLAS   (United States)

^d CHILDREN S MEDICAL CENTER   (United States)

^e CHIS Ibn Sina   (Morocco)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MYH11 PROTEIN; MYOSIN HEAVY CHAIN; PROTEIN; UNCLASSIFIED DRUG; MYH11 PROTEIN, HUMAN;

ACTG2 GENE; ANURIA; BARIUM ENEMA; CASE REPORT; CONTROLLED STUDY; CYSTITIS; DISEASE SEVERITY; DUCTUS ARTERIOSUS; ENTEROPATHY; EXOME; EXON; GENE; GENE FUNCTION; GENE SEQUENCE; GENETIC VARIABILITY; HIGH FREQUENCY OSCILLATION; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; LUNG HYPOPLASIA; MALE; MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME; MICROARRAY ANALYSIS; MULTIPLE ORGAN FAILURE; MYH11 GENE; NEWBORN; OLIGOHYDRAMNIOS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEGREGATION ANALYSIS; ABNORMALITIES; BLADDER; COLON; COMPLICATION; CONSANGUINITY; DNA SEQUENCE; GENE EXPRESSION; GENETICS; HOMOZYGOTE; INTESTINE; INTESTINE OBSTRUCTION; INTESTINE PSEUDOOBSTRUCTION; METABOLISM; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRUNE BELLY SYNDROME;

MUS;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; COLON; CONSANGUINITY; EXOME; GENE EXPRESSION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTESTINAL OBSTRUCTION; INTESTINAL PSEUDO-OBSTRUCTION; INTESTINES; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; PRUNE BELLY SYNDROME; SEQUENCE ANALYSIS, DNA; URINARY BLADDER;

EID: 84939258676     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.256     Document Type: Review

References (12)

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