A Type X Collagen Mutation Causes Schmid Metaphyseal Chondrodysplasia
Source/Author: Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
Abstract
Discovery of the gene involved in metaphyseal chondrodysplasia, Schmid type
Coxa Vara in Chondrodysplasia: Prognosis Study of 35 Hips in 19 Children
Source/Author: Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
Abstract
Overview of this orthopedic condition in multiple skeletal dysplasias
Full text article available by contacting [email protected]
Metaphyseal Chondrodysplasia, Schmid Type; MCDS
Source/Author: OMIM, Online Mendelian Inheritance in Man
Web-based (medical)
Medical/Scientific description of with Metaphyseal Chondrodysplasia, Schmid type with emphasis on the genetics of the condition
Metaphyseal Chondrodysplasia, Schmid Type
Source/Author: M. le Merrer, M.D.; Orphanet
Web-based (medical)
Brief overview of the condition, scientific citations, clinical features and other web sites.
Metaphyseal Chondrodysplasia, Schmid Type. Clinical and Radiographic Delineation with a Review of the Literature
Source/Author: Lachman RS, Rimoin DL, Spranger J.
Abstract
Overview of this condition.
Metaphyseal Chondrodysplasia
Source/Author: Spranger JW. Postgrad Med J. 1977 Aug;53(622):480-7.
Abstract
Review of the clinical and radiographic features of the metaphyseal chondrodysplasias. Please note that this article was published in 1977.
Mutations of COL10A1 in Schmid Metaphyseal Chondrodysplasia
Source/Author: Bateman JF, Wilson R, Freddi S, Lamande SR, Savarirayan R.
Abstract
Mutations Within the Gene Encoding the Alpha 1 (X) Chain of Type X Collagen (COL10A1) Cause Metaphyseal Chondrodysplasia Type Schmid but not Several Other Forms of Metaphyseal Chondrodysplasia
Source/Author: GA Wallis, B Rash, B Sykes, J Bonaventure, P Maroteaux, B Zabel, R Wynne-Davies, ME Grant and RP Boot-Handford; Journal of Medical Genetics
Full text
Medical article on the genes responsible for Metaphyseal Chondrodysplasia, Schmid type
Schmid Type of Metaphyseal Chondrodysplasia and COL10A1 Mutations--Findings in 10 Patients
Source/Author: Makitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG.
Abstract
Metaphyseal Chondrodysplasia, Schmid Type
Source/Author: National Organization for Rare Disorders (NORD)
Web-based (medical)
Brief description of the clinical features/characteristics, medical complications and genetics of this condition.