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5p14 deletion associated with microcephaly and seizures.
Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J. Johnson EI, et al. Among authors: tenenholz b. J Med Genet. 2000 Feb;37(2):125-7. doi: 10.1136/jmg.37.2.125. J Med Genet. 2000. PMID: 10662813 Free PMC article.
1154insTC is not a rare CFTR mutation.
Alper OM, Wong LJ, Hostetter G, Cook J, Tenenholz B, Hsu E, Woo MS. Alper OM, et al. Among authors: tenenholz b. Am J Med Genet A. 2003 Jul 15;120A(2):294-5. doi: 10.1002/ajmg.a.20038. Am J Med Genet A. 2003. PMID: 12833419 No abstract available.