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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17.
Am J Hum Genet. 2001.
PMID: 11462173
Free PMC article.
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.
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.
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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE.
Vervoort VS, et al.
J Med Genet. 2002 Dec;39(12):893-9. doi: 10.1136/jmg.39.12.893.
J Med Genet. 2002.
PMID: 12471201
Free PMC article.
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