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Article

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.

Pediatric radiology - 1 Oct 1998

Kitoh H, Lachman R S, Brodie S G, Mekikian P B, Rimoin D L, Wilcox W R

Abstract excerpt

The platyspondylic lethal skeletal dysplasias (PLSD) are a group of heterogeneous disorders including thanatophoric dysplasia (TD) and the TD variants (San Diego, Torrance, and Luton types). TD is the most common form and has been divided into two subtypes (TD1 and TD2) based on clinical and radiologic criteria and analysis of mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. The variants are...

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Identifiers

PMID: 9799297
DOI: 10.1007/s002470050461

Genes

FGFR3

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