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A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome
被引:0
|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
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关键词:
Pierson syndrome;
Newborn;
Nephrotic syndrome;
LAMB2 mutation;
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