Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.
Institute of Pathology, Neuropathology Section, Jena University Hospital, Friedrich-Schiller-University, Jena, Institute of Neuropathology, Saarland University, School of Medicine, Homburg/S., Germany, Genetic Diagnostic Laboratory, Department of Laboratory Medicine, Children's Hospital Boston, Waltham, MA, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Georgia Regents University, Augusta, GA, and Departments of Obstetrics, Gynecology, and Reproductive Biology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Bernd F M
BF
Romeike
Yiping
Y
Shen
Hiromi Koso
HK
Nishimoto
Cynthia C
CC
Morton
Lawrence C
LC
Layman
Hyung-Goo
HG
Kim
D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008297:Male; D059467:Transcriptome