Potocki-Lupski syndrome mimicking a connective tissue disorder.
Magdalen College, University of Oxford Oxford NIHR Biomedical Research Centre, The Wellcome Trust Centre for Human Genetics Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK Department of Genome Sciences, University of Washington School of Medicine Howard Hughes Medical Institute, Washington, USA.
Judy
J
Martin
Samantha J L
SJL
Knight
Andrew J
AJ
Sharp
Evan E
EE
Eichler
Jane
J
Hurst
Usha
U
Kini
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D003240:Connective Tissue Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D011859:Radiography; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging