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Year | Number of Results |
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2015 | 1 |
2018 | 1 |
2024 | 0 |
PubMed for id: 905199
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Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Am J Med Genet A. 2018 Dec;176(12):2882-2886. doi: 10.1002/ajmg.a.40643. Epub 2018 Nov 21.
Am J Med Genet A. 2018.
PMID: 30462379
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C.
Garbes L, et al.
Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.
Am J Hum Genet. 2015.
PMID: 25683121
Free PMC article.
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