Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos

Clinical Genetics

Volumn 93, Issue 2, 2018, Pages 378-381

  Liehr, T ^a   Acquarola, N ^b   Pyle, K ^a   St Pierre, S ^c   Rinholm, M ^d   Bar, O ^e   Wilhelm, K ^a   Schreyer, I ^a,f  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b Pallister Killian Syndrome Foundation of Australia   (Australia)

^c Chromosome 22 Central   (Canada)

^d Chromosome 22 Central   (United States)

^e Mercedes Benz rDNA   (United States)

^f Human Genetics   (Germany)

Author keywords

Emanuel syndrome; OMIM 609029; Face2Gene; facial dysmorphology novel analysis technology; Pallister Killian syndrome; OMIM 601803; small supernumerary marker chromosome

Indexed keywords

ARTICLE; CHILD; COHORT ANALYSIS; COMPUTER AIDED DESIGN; CONTROLLED STUDY; CYTOGENETICS; EMANUEL SYNDROME; FACIAL DYSMORPHOLOGY NOVEL ANALYSIS; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; PALLISTER KILLIAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; TECHNOLOGY; TERATOLOGY; TWO-DIMENSIONAL IMAGING;

EID: 85036575463     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13087     Document Type: Article

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