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Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35

The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who w...

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Detalles Bibliográficos
Autores principales:	Hibino, Satoshi, Takeda, Asami, Nishino, Ichizo, Iwata, Naoyuki, Nakano, Masaru, Tanaka, Kazuki, Yamakawa, Satoshi, Nagai, Takuhito, Uemura, Osamu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548678/ https://www.ncbi.nlm.nih.gov/pubmed/28717081 http://dx.doi.org/10.2169/internalmedicine.56.7441

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