Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Journal of Medical Genetics

Volumn 40, Issue 10, 2003, Pages 761-766

  Kuijpers, T W ^a   Ridanpaa M ^b   Peters, M ^a   De Boer, I ^c   Vossen, J M J J ^c   Pals, S T ^d   Kaitila, I ^b   Hennekam, R C M ^d  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b UNIVERSITY OF HELSINKI   (Finland)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; METHOTREXATE;

APGAR SCORE; APLASTIC ANEMIA; ARTICLE; BLOOD CHEMISTRY; BONE BOWING; BONE MARROW TRANSPLANTATION; CASE REPORT; CHILD HOSPITALIZATION; CHROMOSOME ANALYSIS; CHRONIC DIARRHEA; CLINICAL FEATURE; DISEASE COURSE; DYSPLASIA; FEMALE; FUNCTION TEST; GENE; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; GRAFT VERSUS HOST REACTION; GROWTH RETARDATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOHISTOCHEMISTRY; INTRAUTERINE GROWTH RETARDATION; KYPHOMELIC DYSPLASIA; LABORATORY TEST; LYMPHOCYTE; MEDICAL ASSESSMENT; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGICAL ANATOMY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RMPR GENE; SHORT LIMBED DWARFISM; TREATMENT OUTCOME; UPPER RESPIRATORY TRACT INFECTION;

EID: 0142240158     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.10.761     Document Type: Article

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