Journal Watch

Tubulopathies

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
Author(s): Thiele S, Werner R, Stubbe A, Hiort O, Hoeppner W
Source: Eur J Endocrinol 2020 Nov;183(5):497-504
Publication date: 2020-11
X-Linked Hypophosphatemia: A New Era in Management.
Author(s): Dahir K, Roberts MS, Krolczyk S, Simmons JH
Source: J Endocr Soc 2020 Dec 1;4(12):bvaa151
Publication date: 2020-12-1
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.
Author(s): Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L
Source: Front Genet 2020;11:585064
Publication date: 2020
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Author(s): Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R
Source: Am J Med Genet A 2020 Nov 30;
Publication date: 2020-11-30
Novel Fanconi Renotubular Syndromes Provide Insights In Proximal Tubule Pathophysiology.
Author(s): Lemaire M
Source: Am J Physiol Renal Physiol 2020 Dec 7;
Publication date: 2020-12-7
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