Concepedia

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to <i>GATA3 </i>gene duplication

Laura Bernardini, Lorenzo Sinibaldi, Anna Capalbo, Irene Bottillo, Brunella Mancuso, Bárbara Torres, Antonio Novelli, MC Digilio, Bruno Dallapiccola

Clinical Genetics · 2009 · 26 citations · 18 references

DOI

Concepts

References

18

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

Loydie A. Jerome, Virginia E. Papaioannou · Nature Genetics · 2001 · 1.1K citations

, , +8

Mapping Pathways and Phenotypes by Systematic Gene Overexpression

Richelle Sopko, Dongqing Huang, Nicolle Preston et al. · Molecular Cell · 2006 · 703 citations · Full text

, , +12

GATA3 haplo-insufficiency causes human HDR syndrome

Hilde Van Esch, Peter Groenen, M. Andrew Nesbit et al. · Nature · 2000 · 654 citations

, , +4

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

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

, , +16