Clinical and radiological findings in Pallister-Killian syndrome

European Journal of Medical Genetics

Volumn 55, Issue 3, 2012, Pages 167-172

  Jamuar, Saumya ^a,b,c   Lai, Angeline ^a   Unger, Sheila ^d   Nishimura, Gen ^e  

^a KK Hospital   (Singapore)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Aortic dilatation; Isochromosome 12p syndrome; Mosaic tetrasomy 12p; Pallister Killian syndrome; Skeletal anomalies

Indexed keywords

ARTICLE; BONE MARROW CELL; CASE REPORT; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; FACE MALFORMATION; FIBROBLAST; HUMAN; LUNG FIBROSIS; MALE; NEWBORN; OSSIFICATION; PALLISTER KILLIAN SYNDROME; PUBIC BONE; RESPIRATORY DISTRESS SYNDROME; SKELETON MALFORMATION;

BONE AND BONES; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 84858866009     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.019     Document Type: Article

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