Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: Further delineation of the phenotype including 40 years follow-up

Author:

Mostert A.K.,Dijkstra P.F.,Jansen B.R.H.,van Horn J.R.,de Graaf B.,Heutink P.,Lindhout D.

Publisher

Wiley

Subject

Genetics (clinical)

Reference27 articles.

1. 1973. Disproportionate short stature. Differential diagnosis and management. 1st edition. Philadelphia: W.B. Saunders Co. 429.

2. Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

3. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

4. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

5. Central Institution for Statistics (CBS). 1998. Vademecum gezondheidsstatistiek. Aspects of health and disease in the population. Edition 1998. Statistics Netherlands, Voorburg/Heerlen, 2003. p 307-317.

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