Clinical and ultrastructural findings in three patients with geleophysic dysplasia

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 50-54

  Pontz, Bertram F ^a   Stoß, Hartmut ^b   Henschke, Frank ^b   Freisinger, Peter ^a   Karbowski, Alfred ^c   Spranger, Jürgen ^c  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b Pathologisches Institut am St Johannisstift   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

geleophysic dysplasia; iliac crest biopsy; skin fibroblasts; storage disease, electron microscopy

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE MARROW BIOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; ELECTRON MICROSCOPY; GELEOPHYSIC DYSPLASIA; HEART DISEASE; HEPATOSPLENOMEGALY; HUMAN; MALE; PRIORITY JOURNAL; SHORT STATURE; SKIN FIBROBLAST; STORAGE DISEASE;

BONE AND BONES; CHILD; FEMALE; GENES, RECESSIVE; HUMANS; ILIUM; MALE; MICROSCOPY, ELECTRON; NUCLEAR FAMILY; OSTEOCHONDRODYSPLASIAS;

EID: 0029993480     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<50::AID-AJMG11>3.0.CO;2-T     Document Type: Article

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