Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages 557-563

  Basel Vanagaite, L ^a,b,c   Wolf, L ^b,c   Orin, M ^c   Larizza, L ^d,e   Gervasini, C ^d,e   Krantz, I D ^f,g   Deardoff, M A ^f,g  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c Mercedes Benz rDNA   (United States)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Automated facial recognition; CdLS; Clinical genetics; Dysmorphology; FDNA

Indexed keywords

CHROMOSOME PROTEIN; NIPBL PROTEIN; SMC1A PROTEIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ARTICLE; ASSESSMENT OF HUMANS; AUTOMATION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL PRACTICE; CONTROLLED STUDY; DE LANGE SYNDROME; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FACE DYSMORPHIA; FACIAL DYSMORPHOLOGY NOVEL ANALYSIS; FACIAL RECOGNITION; FEMALE; GENE MUTATION; HEALTH CARE PERSONNEL; HUMAN; IMAGE ANALYSIS; MALE; MEDICAL EXPERT; MEDICAL TECHNOLOGY; PHENOTYPE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; ABNORMALITIES; DIFFERENTIAL DIAGNOSIS; FACE; FACE ASYMMETRY; FACIES; GENETICS; IMAGE PROCESSING; MUTATION; PROCEDURES; REPRODUCIBILITY;

CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DIAGNOSIS, DIFFERENTIAL; FACE; FACIAL ASYMMETRY; FACIES; FEMALE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MALE; MUTATION; PHENOTYPE; PROTEINS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84964063098     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12716     Document Type: Article

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