Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

INTRODUCTION: Laminin subunit beta-2 (LAMB2)-associated disease, termed Pierson syndrome, presents with congenital nephrotic syndrome, ocular symptoms, and neuromuscular symptoms. In recent years, however, the widespread use of next-generation sequencing (NGS) has helped to discover a variety of phe...

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Detalles Bibliográficos
Autores principales: Suzuki, Ryota, Sakakibara, Nana, Ichikawa, Yuta, Kitakado, Hideaki, Ueda, Chika, Tanaka, Yu, Okada, Eri, Kondo, Atsushi, Ishiko, Shinya, Ishimori, Shingo, Nagano, China, Yamamura, Tomohiko, Horinouchi, Tomoko, Okamoto, Takayuki, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496080/
https://www.ncbi.nlm.nih.gov/pubmed/37705905
http://dx.doi.org/10.1016/j.ekir.2023.06.019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496080/
https://www.ncbi.nlm.nih.gov/pubmed/37705905
http://dx.doi.org/10.1016/j.ekir.2023.06.019

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