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

• Main Authors: Shoko Horita (Author), Enver Simsek (Author), Tulay Simsek (Author), Nilgun Yildirim (Author), Hiroyuki Ishiura (Author), Motonobu Nakamura (Author), Nobuhiko Satoh (Author), Atsushi Suzuki (Author), Hiroyuki Tsukada (Author), Tomohito Mizuno (Author), George Seki (Author), Shoji Tsuji (Author), Masaomi Nangaku (Author)
• Format: Book
• Published: BMC, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 bee...