Spondyloepiphyseal dysplasia, Byers type (Q88347): Difference between revisions
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Revision as of 14:32, 15 August 2026
Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported.
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| default for all languages | ID_1922586680 |
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| English | Spondyloepiphyseal dysplasia, Byers type |
Spondyloepiphyseal dysplasia, Byers type is a type of spondyloepiphyseal dysplasia described in several members of a single family and characterised by short-trunked short stature, punctate corneal dystrophy and disorganisation of dermal collagen fibrils on transmission electron microscopy examination. Since the original report of this family in the 1970s, no new cases have been reported. |
