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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3b.

Other Allelic Disorders (not in the Differential Diagnosis of SMDCF)

GeneDisorder
COL2A1 1Achondrogenesis type II
Hypochondrogenesis
Legg-Calve-Perthes disease (avascular necrosis of the femoral head)
Mild spondyloepiphyseal dysplasia w/premature-onset arthrosis
Osteoarthritis w/mild chondrodysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepiphyseal dysplasia, Stanescu type (OMIM 616583)
Stickler syndrome
FN1 Glomerulopathy with fibronectin deposits 2 (OMIM 601894)
Plasma fibronectin deficiency (OMIM 614101)

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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