Oto- spondylo-megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

American Journal of Medical Genetics

Volumn 70, Issue 3, 1997, Pages 315-323

  Van Steensel, M A M ^a   Buma, P ^a   De Waal Malefijt, M C ^a   Van Den Hoogen, F H J ^a   Brunner, H G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Collagen XI; Marshall; OSMED; Stickler

Indexed keywords

COLLAGEN TYPE 11;

ARTICLE; CASE REPORT; CELL ULTRASTRUCTURE; COLLAGEN METABOLISM; CONSANGUINEOUS MARRIAGE; FACE MALFORMATION; FEMALE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NEWBORN; OTOSPONDYLOMEGAEPHIPHYSEAL DYSPLASIA; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; CARTILAGE, ARTICULAR; CHILD; CHILD, PRESCHOOL; COLLAGEN; DEAFNESS; EPIPHYSES; FEMALE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MICROSCOPY, ELECTRON; MUTATION; PEDIGREE;

EID: 0030958929     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O     Document Type: Article

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