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Year | Number of Results |
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1993 | 1 |
1994 | 1 |
2024 | 0 |
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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323.
Nat Genet. 1993.
PMID: 7981752
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B.
Spranger J, et al.
Pediatr Radiol. 1994;24(6):431-5. doi: 10.1007/BF02011911.
Pediatr Radiol. 1994.
PMID: 7700721
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