Associated Papers
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Abreu NJ et al.
American Journal of Medical Genetics. Part A, 2020
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Tysoe C et al.
Qjm : Monthly Journal of the Association of Physicians, 2003
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