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Journal article

GATA3 haplo-insufficiency causes human HDR syndrome.

Abstract:

Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. Studies in patients with 10p deletions have defined two non-overlapping regions that contribute to this complex phenotype. These are the DiGeorge critical region II (refs 1, 2), which is located on 10p13-14, and the region for the hypoparathyroidism, sensorineural deafness, renal anomaly (HDR) syndrome (Mendelian Inherit...

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Publication status:
Published

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Publisher copy:
10.1038/35019088

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
Nature
Volume:
406
Issue:
6794
Pages:
419-422
Publication date:
2000-07-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:e561af0a-55ae-4b61-a313-f961edb1b50f
Source identifiers:
28685
Local pid:
pubs:28685

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