WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Journal of Medical Genetics

Volumn 52, Issue 11, 2015, Pages 754-761

  De Santo, Cori ^a   D'Aco, Kristin ^b   Araujo, Gabriel C ^c   Shannon, Nora ^d   Study, D D D ^e   Vernon, Hilary ^f,g   Rahrig, April ^h   Monaghan, Kristin G ⁱ   Niu, Zhiyv ^j   Vitazka, Patrik ⁱ   Dodd, Jonathan ^c   Tang, Sha ^k   Manwaring, Linda ^a   Martir Negron, Arelis ^h,l   Schnur, Rhonda E ⁱ   Juusola, Jane ⁱ   Schroeder, Audrey ^b   Pan, Vivian ^h   Helbig, Katherine L ^k   Friedman, Bethany ⁱ   Shinawi, Marwan ^a   more..

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c ST LOUIS CHILDREN S HOSPITAL   (United States)

^d NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^e WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^f KENNEDY KRIEGER INSTITUTE   (United States)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h ADVOCATE CHILDREN S HOSPITAL   (United States)

ⁱ GENEDX   (United States)

^j BAYLOR COLLEGE OF MEDICINE   (United States)

^k AMBRY GENETICS   (United States)

^l NICKLAUS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 10P; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONSTIPATION; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC DISORDER; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HIRSUTISM; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MEDICAL RECORD REVIEW; MICRODELETION SYNDROME; MUSCLE HYPOTONIA; NEUROPSYCHOLOGICAL TEST; NONSENSE MEDIATED RNA DECAY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROCEDURES; PROTEIN TRUNCATION; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; SLEEP DISORDER; WAC GENE; ABNORMALITIES, MULTIPLE; ADULT; BEHAVIOR; CASE REPORT; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MUTATION; NEWBORN; PREGNANCY; SYNDROME;

SIGNAL TRANSDUCING ADAPTOR PROTEIN; WAC PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BEHAVIORAL SYMPTOMS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; MUTATION; PREGNANCY; SYNDROME;

EID: 84954392157     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103069     Document Type: Article

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