A case of atelosteogenesis type III with bladder stone and proteinuria
Author:
Affiliation:
1. Department of Neonatology, Tokyo Metropolitan Ohtsuka Hospital
2. Department of Pathology, Keio University School of Medicine
3. Department of Pediatrics, Keio University School of Medicine
Publisher
Japanese Society for Pediatric Nephrology
Subject
Literature and Literary Theory,History,Cultural Studies
Link
https://www.jstage.jst.go.jp/article/jjpn/33/2/33_cr.2020.0182/_pdf
Reference19 articles.
1. 1) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Robertson S: FLNB Disorders. University of Washington, 1993. https://www.ncbi.nlm.nih.gov/books/NBK2534/ (Accessed: June 13, 2018).
2. 2) Schultz C, Langer LO, Laxyoya R, Pauli RM: Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. Am J Med Genet 1999; 83: 28-42.
3. 3) Zhou AX, Hartwig JH, Akyürek LM: Filamins in cell signaling, transcription and organ development. Trends Cell Biol 2010; 20: 113-123.
4. 4) Feng Y, Walsh CA: The many faces of filamin: versatile molecular scaffold for cell motility and signaling. Nat Cell Biol 2004; 6: 1034-1038.
5. 5) Sas DJ: An update on the changing epidemiology and metabolic risk factors in pediatric kidney stone disease. Clin J Am Soc Nephrol 2011; 6: 2062-2068.
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