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Page 1
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth AS, Graham JM Jr, Stevenson RE, Schwartz CE. de Mollerat XJ, et al. Among authors: colby rs. J Med Genet. 2003 Jan;40(1):55-61. doi: 10.1136/jmg.40.1.55. J Med Genet. 2003. PMID: 12525544 Free PMC article. No abstract available.
LADD syndrome is caused by FGF10 mutations.
Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. Milunsky JM, et al. Clin Genet. 2006 Apr;69(4):349-54. doi: 10.1111/j.1399-0004.2006.00597.x. Clin Genet. 2006. PMID: 16630169
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. Chitayat D, et al. Among authors: colby rs. Am J Med Genet A. 2007 Jun 15;143A(12):1268-81. doi: 10.1002/ajmg.a.31788. Am J Med Genet A. 2007. PMID: 17506106
Recognizing Salinity Threats in the Climate Crisis.
Lee CE, Downey K, Colby RS, Freire CA, Nichols S, Burgess MN, Judy KJ. Lee CE, et al. Among authors: colby rs. Integr Comp Biol. 2022 Aug 25;62(2):441-460. doi: 10.1093/icb/icac069. Integr Comp Biol. 2022. PMID: 35640911