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Lip pits and deletion 1q32----41.
Bocian M, Walker AP. Bocian M, et al. Am J Med Genet. 1987 Feb;26(2):437-43. doi: 10.1002/ajmg.1320260223. Am J Med Genet. 1987. PMID: 3812594
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R.
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. Ramanathan S, et al. Among authors: bocian me. BMC Med Genet. 2004 Apr 16;5:10. doi: 10.1186/1471-2350-5-10. BMC Med Genet. 2004. PMID: 15090072 Free PMC article.
The spirit of dysmorphology future (or: Hoyle foiled).
Karp LE, Bocian M. Karp LE, et al. Among authors: bocian m. Am J Med Genet. 1984 Feb;17(2):395-8. doi: 10.1002/ajmg.1320170202. Am J Med Genet. 1984. PMID: 6702892 No abstract available.
64 results