Severe spinal muscular atrophy variant associated with congenital bone fractures

Journal of Child Neurology

Volumn 17, Issue 9, 2003, Pages 718-721

  Felderhoff Mueser, Ursula ^a   Grohmann, Katja ^a   Harder, Anja ^a   Stadelmann, Christine ^a   Zerres, Klaus ^b   Bührer, Christoph ^a   Obladen, Michael ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; SURVIVAL MOTONEURON PROTEIN 1; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 5Q; CLINICAL FEATURE; COMORBIDITY; CONTRACTURE; DISEASE SEVERITY; FEMUR FRACTURE; GENE DELETION; GENE MUTATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; HUMAN TISSUE; HUMERUS FRACTURE; INFANT; LIMB; MALE; OSTEOPENIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RIB; TRUNK;

EID: 0037412012     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380201700915     Document Type: Article

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