Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases-Reference-Cited by-同舟云学术

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Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases

Published:2023-03 Issue:2 Volume:43 Page:261-263
ISSN:2013-2514
Container-title:Nefrología (English Edition)
language:en
Short-container-title:Nefrología (English Edition)

Author:

Martínez Jiménez Víctor,Ortuño López Pedro Pablo,Roca Meroño Susana,Rodríguez Peña Lidia,Galán Carrillo Isabel,Galbis Martínez Liliana,Ramos Carrasco Fernanda,Piñero Hernández Juan Alberto,González Rodríguez Juan David,Guillén Navarro Encarnación

Publisher

Elsevier BV

Subject

Nephrology

Reference10 articles.

1. Spanish guidelines for the management of autosomal dominant polycystic kidney disease;Ars;Nephrol Dial Transplant,2014

2. Centrosomes and cilia in human disease;Bettencourt-Dias;Trends Genet,2011

3. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains;de Conciliis;Genomics,1998

4. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification;Ferrante;Nat Genet,2006

5. Oral-facial-digital syndromes: review and diagnostic guidelines;Gurrieri;Am J Med Genet,2007

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