Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Journal of Medical Genetics

Volumn 47, Issue 1, 2010, Pages 30-37

  Vega, H ^a,b   Trainer, A H ^c   Gordillo, M ^a   Crosier, M ^c   Kayserili, H ^d   Skovby, F ^e   Uzielli, M L Giovannucci ^f   Schnur, R E ^g   Manouvrier, S ^h   Blair, E ⁱ   Hurst, J A ⁱ   Forzano, F ^j   Meins, M ^k   Simola, K O J ^l   Raas Rothschild, A ^m   Hennekam, R C M ^n,o   Jabs, E Wang ^a  

^a CITY UNIVERSITY OF NEW YORK   (United States)

^b UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ISTANBUL UNIVERSITY   (Turkey)

^e Copenhagen University Hospital ^*  (Denmark)

^f UNIVERSITY OF FLORENCE   (Italy)

^g UMDNJ Robert Wood Johnson Medical School at Camden   (United States)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ CHURCHILL HOSPITAL   (United Kingdom)

^j GALLIERA HOSPITAL   (Italy)

^k RUHR UNIVERSITY BOCHUM   (Germany)

^l TAMPERE UNIVERSITY HOSPITAL   (Finland)

^m HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o UNIVERSITY OF AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE;

ACETYLATION; ARM; ARTICLE; CLINICAL ARTICLE; CLINICAL STUDY; CODON; CONTROLLED STUDY; CORNEA OPACITY; DISEASE SEVERITY; EMBRYO; ESTABLISHMENT OF COHESION 1 HOMOLOGUE 2; FACE; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; GONAD; GROWTH RETARDATION; HUMAN; IN SITU HYBRIDIZATION; KIDNEY; LIMB; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; ROBERTS SYNDROME;

ABNORMALITIES, MULTIPLE; ACETYLTRANSFERASES; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; GENETIC VARIATION; HUMANS; INFANT; MALE; MENTAL RETARDATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; SYNDROME;

EID: 74549135804     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.068395     Document Type: Article

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