Marshall-Stickler phenotype associated with von Willebrand disease
Abstract
We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von Willebrand disease (vWD). MS syndrome has been linked in some cases to the type II procollagen gene (COL2A1) on chromosome 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (vWF) is encoded by a 180-Kb gene located on the short arm of chromosome 12. This is the first reported association of these two disorders. 26 refs., 5 figs., 1 tab.
- Authors:
-
- Univ. of Nebraska Medical Center, Omaha, NE (United States)
- Publication Date:
- OSTI Identifier:
- 518284
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 68; Journal Issue: 2; Other Information: PBD: 20 Jan 1997
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HEREDITARY DISEASES; ETIOLOGY; DIAGNOSIS; PATIENTS; PHENOTYPE; CONGENITAL MALFORMATIONS; SENSE ORGANS DISEASES; HEMIC DISEASES; COLLAGEN; GENETIC MAPPING; GENE MUTATIONS; HUMAN CHROMOSOME 12; HUMAN CHROMOSOME 6; GENETICS; BLOOD COAGULATION; DOMINANT MUTATIONS
Citation Formats
MacDonald, M R, Baker, K S, and Schaefer, G B. Marshall-Stickler phenotype associated with von Willebrand disease. United States: N. p., 1997.
Web. doi:10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S.
MacDonald, M R, Baker, K S, & Schaefer, G B. Marshall-Stickler phenotype associated with von Willebrand disease. United States. https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S
MacDonald, M R, Baker, K S, and Schaefer, G B. 1997.
"Marshall-Stickler phenotype associated with von Willebrand disease". United States. https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S.
@article{osti_518284,
title = {Marshall-Stickler phenotype associated with von Willebrand disease},
author = {MacDonald, M R and Baker, K S and Schaefer, G B},
abstractNote = {We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von Willebrand disease (vWD). MS syndrome has been linked in some cases to the type II procollagen gene (COL2A1) on chromosome 12q, and to the collagen XI gene (COL11A2) on chromosome 6. The von Willebrand factor (vWF) is encoded by a 180-Kb gene located on the short arm of chromosome 12. This is the first reported association of these two disorders. 26 refs., 5 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19970120)68:2<121::AID-AJMG1>3.0.CO;2-S},
url = {https://www.osti.gov/biblio/518284},
journal = {American Journal of Medical Genetics},
number = 2,
volume = 68,
place = {United States},
year = {Mon Jan 20 00:00:00 EST 1997},
month = {Mon Jan 20 00:00:00 EST 1997}
}
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