Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
Kuijpers
T W
TW
Ridanpää
M
M
Peters
M
M
de Boer
I
I
Vossen
J M J J
JM
Pals
S T
ST
Kaitila
I
I
Hennekam
R C M
RC
D000741:Anemia, Aplastic / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D004722:Endoribonucleases / Q000235:genetics*; D005260:Female; D005269:Femur / Q000002:abnormalities; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007223:Infant; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis; D008198:Lymph Nodes / Q000473:pathology; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis; D011859:Radiography; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology
D004722:Endoribonucleases; C058330:mitochondrial RNA-processing endoribonuclease