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LADD syndrome is caused by FGF10 mutations.
Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. Milunsky JM, et al. Among authors: colby r. Clin Genet. 2006 Apr;69(4):349-54. doi: 10.1111/j.1399-0004.2006.00597.x. Clin Genet. 2006. PMID: 16630169
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.
Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Everman DB, et al. Among authors: colby r. Am J Med Genet A. 2006 Jul 1;140(13):1375-83. doi: 10.1002/ajmg.a.31246. Am J Med Genet A. 2006. PMID: 16761290
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.
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. 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
108 results