Article
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
BMC medical genetics - 18 Jun 2018
Horita Shoko, Simsek Enver, Simsek Tulay, Yildirim Nilgun, Ishiura Hiroyuki, Nakamura Motonobu, Satoh Nobuhiko, Suzuki Atsushi, Tsukada Hiroyuki, Mizuno Tomohito, Seki George, Tsuji Shoji, Nangaku Masaomi
Abstract excerpt
BACKGROUND: Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. CASE PRESENTATION: We performed direct nucleotide sequencing analysis...
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