The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies-Reference-Cited by-同舟云学术

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

Published:2006-07-15 Issue:14 Volume:140A Page:1608-1613
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome

2. A common molecular basis for rearrangement disorders on chromosome 22q11

3. Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

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