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Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

Synonym(s): Thanatophoric Dysplasia, Luton Type, Thanatophoric Dysplasia, Torrance Variant

 

OMIM

Gene	Locus	Protein
COL2A1	12q12-q13.2	Collagen alpha-1(II) chain

 

For tests, please check "Related Disorders" when present.