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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
Author(s) -
de La Rochebrochard Céline,
JolyHélas Géraldine,
Goldenberg Alice,
Durand Isabelle,
Laquerrière Annie,
Ickowicz Valentine,
SaugierVeber Pascale,
Eurin Danièle,
Moirot Hélène,
Diguet Alain,
de Kergal Fabrice,
Tiercin Coralie,
Mace Bertrand,
Marpeau Loïc,
Frebourg Thierry
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31227
Subject(s) - university hospital , obstetrics and gynaecology , medicine , family medicine , biology , genetics , pregnancy
Céline de La Rochebrochard,* 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, Loı̈c Marpeau, and Thierry Frebourg Laboratory of Cytogenetics, Rouen University Hospital, Rouen, France Department of Genetics, Rouen University Hospital, Rouen, France Department of Pediatrics, Rouen University Hospital, Rouen, France Department of Pathology, Rouen University Hospital, Rouen, France Department of Obstetrics and Gynecology, Rouen University Hospital, Rouen, France