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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: carey jc. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.
Rubinstein-Taybi syndrome: a natural history study.
Stevens CA, Carey JC, Blackburn BL. Stevens CA, et al. Among authors: carey jc. Am J Med Genet Suppl. 1990;6:30-7. doi: 10.1002/ajmg.1320370605. Am J Med Genet Suppl. 1990. PMID: 2118775
Prenatal diagnosis of distal arthrogryposis.
Baty BJ, Cubberley D, Morris C, Carey J. Baty BJ, et al. Am J Med Genet. 1988 Mar;29(3):501-10. doi: 10.1002/ajmg.1320290305. Am J Med Genet. 1988. PMID: 3287922 Review.
Development of human palmar and digital flexion creases.
Stevens CA, Carey JC, Shah M, Bagley GP. Stevens CA, et al. Among authors: carey jc. J Pediatr. 1988 Jul;113(1 Pt 1):128-32. doi: 10.1016/s0022-3476(88)80546-8. J Pediatr. 1988. PMID: 3385521
A gene for ulnar-mammary syndrome maps to 12q23-q24.1.
Bamshad M, Krakowiak PA, Watkins WS, Root S, Carey JC, Jorde LB. Bamshad M, et al. Among authors: carey jc. Hum Mol Genet. 1995 Oct;4(10):1973-7. doi: 10.1093/hmg/4.10.1973. Hum Mol Genet. 1995. PMID: 8595424
409 results