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Dysplasias

Spondylo-megaepiphyseal-metaphyseal dysplasia – NKX3-2

December 8, 2020

Spondyloepiphyseal dysplasia with other abnormalities – CHST3 CCN6

December 8, 2020

Spondyloepimetaphyseal dysplasia – B3GALT6 NANS

December 8, 2020

Desbuquois dysplasia – CANT1 XYLT1

December 8, 2020

Schneckenbecken dysplasia – SLC35D1

December 8, 2020

Short-rib thoracic dysplasia with or without polydactyly – CEP120 DYNC2LI1 KIAA0586 TTC21B WDR34 WDR35 WDR60 DYNC2H1 IFT140 IFT172 IFT80 NEK1

December 8, 2020

Spondylometaepiphyseal dysplasia, short limb-hand type – DDR2

December 8, 2020

De la Chapelle dysplasia – SLC26A2

December 8, 2020

Diastrophic dysplasia – SLC26A2

December 8, 2020

Craniofrontonasal dysplasia – EFNB1

December 8, 2020

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Royal Children’s Hospital
Flemington Road, Parkville, VIC 3052
P (03) 8341 6315 E info@gsnv.org.au

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