A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

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作者
Boutaina Zemrani
François Cachat
Olivier Bonny
Eric Giannoni
Jacques Durig
Florence Fellmann
Hassib Chehade
机构
[1] Lausanne University Hospital,Division of Pediatric Nephrology, Department of Pediatrics
[2] Lausanne University Hospital,Service of Nephrology
[3] Lausanne University Hospital,Service of Neonatology
[4] Lausanne University Hospital,Service of Ophthalmology
[5] Lausanne University Hospital,Service of Medical Genetics
关键词
Pierson syndrome; Newborn; Nephrotic syndrome; LAMB2 mutation;
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