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Volumn 95, Issue 2, 2000, Pages 157-160

Yunis-Varon syndrome: Evidence for a lysosomal storage disease

(8) Walch, Elisabeth a Schmidt, Matthias a Brenner, Rolf E b Emons, Dieter a Dame, Christof a Pontz, Bertram c Wiestler, Ottmar D a Bartmann, Peter a

a UNIVERSITY OF BONN (Germany)

b UNIVERSITY OF ULM (Germany)

c TECHNICAL UNIVERSITY OF MUNICH (Germany)

Author keywords

Bone dysplasia; Cleidocranial dysplasia; Dandy Walker malformation; Distal aphalangia; Osteochondrodysplasia; Storage disease

Indexed keywords

OLIGOSACCHARIDE;

ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DANDY WALKER SYNDROME; DISEASE COURSE; GENETIC DISORDER; HUMAN; INFANT; LYSOSOME STORAGE DISEASE; MALE; NEUROPATHOLOGY; PATHOGENESIS; PRIORITY JOURNAL; RADIODIAGNOSIS; YUNIS VARON SYNDROME;

ABNORMALITIES, MULTIPLE; AUTOPSY; BONE AND BONES; BRAIN; CARBOHYDRATES; CASE REPORT; CHROMATOGRAPHY, THIN LAYER; DANDY-WALKER SYNDROME; FATAL OUTCOME; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMAN; HYDROCEPHALUS; HYPERTENSION; INFANT; LYSOSOMAL STORAGE DISEASES; MICROCEPHALY; MICROSCOPY, ELECTRON; NEURAMINIC ACIDS; NEURONS; OLIGOSACCHARIDES; SYNDROME;

EID: 0034645526 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/1096-8628(20001113)95:2<157::AID-AJMG12>3.0.CO;2-E Document Type: Article

Times cited : (21)

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