Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
J Med Genet
; 40(10): 761-6, 2003 Oct.
Article
in En
| MEDLINE
| ID: mdl-14569125
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Dwarfism
/
Endoribonucleases
/
Immunologic Deficiency Syndromes
/
Anemia, Aplastic
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
J Med Genet
Year:
2003
Document type:
Article
Country of publication:
Reino Unido