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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006740/
https://www.ncbi.nlm.nih.gov/pubmed/29914390
http://dx.doi.org/10.1186/s12881-018-0612-y

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