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PubMed (cited) for id: 610682

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Page 1
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ. Balasubramanian M, et al. Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604815
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Barnes AM, et al. N Engl J Med. 2006 Dec 28;355(26):2757-64. doi: 10.1056/NEJMoa063804. N Engl J Med. 2006. PMID: 17192541 Free PMC article.