Potocki-Lupski syndrome mimicking a connective tissue disorder.
Martin
Judy
J
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.
Knight
Samantha J L
SJL
Sharp
Andrew J
AJ
Eichler
Evan E
EE
Hurst
Jane
J
Kini
Usha
U
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