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Items: 4

1.
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow
Nat Commun. Author manuscript; available in PMC 2015 Dec 16.
Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092
PMCID:
PMC4470332
ArticlePDF–1.8M
2.
3D spinal and rib cage predictors of brace effectiveness in adolescent idiopathic scoliosis
Saba Pasha
BMC Musculoskelet Disord. 2019; 20: 384. Published online 2019 Aug 22. doi: 10.1186/s12891-019-2754-2
PMCID:
PMC6706918
ArticlePDF–1.1M
3.
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow
Clin Genet. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947
PMCID:
PMC5538819
ArticlePDF–311K
4.
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.
N. H. Myong, J. W. Park, J. G. Chi
J Korean Med Sci. 1998 Apr; 13(2): 201–206. doi: 10.3346/jkms.1998.13.2.201
PMCID:
PMC3054471
SummaryPDF–636K

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