Potocki-Lupski syndrome mimicking a connective tissue disorder

Clin Dysmorphol. 2008 Jul;17(3):211-213. doi: 10.1097/MCD.0b013e328303b9c2.

Authors

Judy Martin¹, Samantha J L Knight, Andrew J Sharp, Evan E Eichler, Jane Hurst, Usha Kini

Affiliation

¹ 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.

PMID: 18541972
DOI: 10.1097/MCD.0b013e328303b9c2

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Chromosome Aberrations*
Chromosomes, Human, Pair 17*
Connective Tissue Diseases / diagnostic imaging*
Connective Tissue Diseases / genetics*
Foot Deformities, Congenital / genetics
Humans
Intellectual Disability / genetics
Kyphosis / diagnostic imaging
Kyphosis / genetics
Male
Radiography
Thoracic Vertebrae / diagnostic imaging