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: ickowicz v.
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.