GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 i...

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Hlavní autoři: Muroya, K., Hasegawa, T., Ito, Y., Nagai, T., Isotani, H., Iwata, Y., Yamamoto, K., Fujimoto, S., Seishu, S., Fukushima, Y., Hasegawa, Y., Ogata, T.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2001
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734904/
https://ncbi.nlm.nih.gov/pubmed/11389161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.6.374
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