A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess

HDR syndrome is characterized by the triad of primary hypoparathyroidism, sensorineural hearing loss and renal malformation with widely variable manifestations. It is an autosomal dominant inherited disease caused by a mutation of the GATA3 (NM_001002295.2), which is located on chromosome 10p14. Con...

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Bibliographic Details
Published in:CEN Case Rep
Main Authors: Ikeuchi, Mayo, Kiyota, Kyoko, Itonaga, Tomoyo, Kawano-Matsuda, Fumika, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Ozono, Keiichi, Ihara, Kenji
Format: Artigo
Language:Inglês
Published: Springer Singapore 2020
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8019435/
https://ncbi.nlm.nih.gov/pubmed/33159669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00551-0
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