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Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D

21 Nov 2018

Abstract excerpt

Cole-Carpenter syndrome is a rare skeletal dysplasia associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome. Only 3 and 6 variants in SEC24D have been reported in patients with Cole-Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15-year-old Japanese boy with short stature of the short-trunk type and craniofacial abnormalities including ocular proptosis,...

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PMID: 30462379
DOI: 10.1002/ajmg.a.40643

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