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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
de La Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T. de La Rochebrochard C, et al. Among authors: marpeau l. Am J Med Genet A. 2006 Jul 15;140(14):1608-13. doi: 10.1002/ajmg.a.31227. Am J Med Genet A. 2006. PMID: 16761289 No abstract available.
[For a late ultrasonography in the third quarter of pregnancy].
Diguet A, Marpeau L. Diguet A, et al. Among authors: marpeau l. Gynecol Obstet Fertil. 2008 Jun;36(6):680-2. doi: 10.1016/j.gyobfe.2008.04.008. Epub 2008 Jun 9. Gynecol Obstet Fertil. 2008. PMID: 18539505 French. No abstract available.
364 results