The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies - PubMed (original) (raw)

. 2006 Jul 15;140(14):1608-13.

doi: 10.1002/ajmg.a.31227.

Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet, Fabrice de Kergal, Coralie Tiercin, Bertrand Mace, Loïc Marpeau, Thierry Frebourg

• PMID: 16761289
• DOI: 10.1002/ajmg.a.31227

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

Céline de La Rochebrochard et al. Am J Med Genet A. 2006.

No abstract available

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