Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.
Sauerstein
K
K
Pediatric Clinic, Friedrich-Alexander University of Erlangen-Nuernberg, Loschgestr. 15, 91054 Erlangen, Germany. katja.sauerstein@kinder.imed.uni-erlangen.de
Schroth
M
M
Amann
K
K
Hoyer
J
J
Singer
H
H
Rauch
A
A
Dötsch
J
J
D002675:Child, Preschool; D003241:Consanguinity; D004265:DNA Helicases / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D009404:Nephrotic Syndrome / Q000150:complications* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000209:etiology*
C412482:SMARCAL1 protein, human; D004265:DNA Helicases