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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/the-intrafamilial-variability-of-the-22q11-2-microduplication-encompasses-a/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Céline de La Rochebrochard,Géraldine Joly‐Hélas,Alice Goldenberg,Isabelle Durand,Annie Laquerrière,V. Ickowicz,Pascale Saugier-Véber,D. Eurin,Hélène Moirot,A. Diguet,Fabrice de Kergal,Coralie Tiercin,Bertrand Macé,L. Marpeau,Thierry Frébourg |
| Citations | 73 |
| DOI | 10.1002/ajmg.a.31227 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2111019868 |
| PMID | 16761289 |
| Type | article |
| Year | 2006 |

## Paper authors

- [A. Diguet](https://scholariq.org/researchers/a-diguet/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## Paper primary topic

- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

## Paper topics

- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Congenital Heart Disease Studies](https://scholariq.org/topics/congenital-heart-disease-studies/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.