Long-term survival in Stuve-Wiedemann syndrome: A neuro-myo- skeletal disorder with manifestations of dysautonomia

American Journal of Medical Genetics

Volumn 118 A, Issue 4, 2003, Pages 362-368

  Di Rocco, Maja ^a   Stella, G ^a   Bruno, C ^a   Lamba, L Doria ^a   Bado, M ^a   Superti Furga, A ^b  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Dysautonomia; Long term survival; Mitochondrial defect; Stuve Wiedemann syndrome

Indexed keywords

FAT DROPLET;

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; CORNEA REFLEX; DISEASE ASSOCIATION; DYSAUTONOMIA; ENZYME ACTIVITY; FAMILIAL DISEASE; HUMAN; KERATITIS; LETHALITY; LONG TERM CARE; LONGEVITY; MALE; MULTIPLE MALFORMATION SYNDROME; MUSCLE MITOCHONDRION; MUSCULOSKELETAL DISEASE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHWARTZ JAMPEL SYNDROME; STUVE WIEDEMANN SYNDROME; SURVIVAL; SURVIVAL TIME; ULCER;

EID: 0042331463     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10242     Document Type: Article

References (9)

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