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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Bibliografische gegevens
Gepubliceerd in:CEN Case Rep
Hoofdauteurs: Ikeuchi, Mayo, Kiyota, Kyoko, Itonaga, Tomoyo, Kawano-Matsuda, Fumika, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Ozono, Keiichi, Ihara, Kenji
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Singapore 2020
Onderwerpen:
Case Report
Online toegang: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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