A case of neonatal Jeune syndrome expanding the phenotype

KEY CLINICAL MESSAGE: We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal fai...

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Detalles Bibliográficos
Autores principales: Drera, Bruno, Ferrari, Daniela, Cavalli, Pietro, Poggiani, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184654/
https://www.ncbi.nlm.nih.gov/pubmed/25356276
http://dx.doi.org/10.1002/ccr3.85

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