Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3002-3017

  Wilkens, Alisha ^a   Liu, Hongbin ^b   Park, Kristen ^c   Campbell, Lindsey B ^a   Jackson, Marie ^a   Kostanecka, Anna ^d   Pipan, Mary ^a   Izumi, Kosuke ^a   Pallister, Phillip ^e   Krantz, Ian D ^a,f  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b ARCADIA UNIVERSITY   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^d Park Nicollet Alexander Center   (United States)

^e Shodair Hospital   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Isochromosome 12; Pallister Killian syndrome; PKS; Teschler Nicola Killian syndrome; Tetrasomy 12p

Indexed keywords

ADULT; ARTICLE; CHILD DEVELOPMENT; CHROMOSOME 12P; CHROMOSOME MOSAICISM; CLINICAL EXAMINATION; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DIAPHRAGM DISEASE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; EAR MALFORMATION; EYE DISEASE; FAMILY; FEMALE; GASTROINTESTINAL DISEASE; GROWTH; HEARING DISORDER; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MUSCULOSKELETAL DISEASE; PALLISTER KILLIAN SYNDROME; PATIENT COUNSELING; POSTNATAL GROWTH; PRIORITY JOURNAL; SEIZURE; SKIN MALFORMATION; TERATOLOGY; TETRASOMY; UROGENITAL TRACT DISEASE;

EID: 84870252214     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35722     Document Type: Article

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