Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2-Reference-Cited by-同舟云学术

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Published:2020-06-13 Issue:8 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Peces Ramón¹^ORCID,Mena Rocío²³,Martín Yolanda⁴,Hernández Concepción⁴,Peces Carlos⁵,Tellería Dolores⁴,Cuesta Emilio⁶,Selgas Rafael¹,Lapunzina Pablo²³,Nevado Julián²³

Affiliation:

1. Servicio de Nefrología Hospital Universitario La PazIdiPAZUniversidad Autónoma Madrid Spain

2. Instituto de Genética Médica y Molecular (INGEMM)‐IdiPAZ Hospital Universitario La PazUniversidad Autónoma Madrid Spain

3. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades RarasISCIII Madrid Spain

4. Servicio de Genética Hospital Universitario Ramón y CajalCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain

5. Area de Tecnologías de la InformaciónSESCAM Toledo Spain

6. Servicio de Radiología Hospital Universitario La PazIdiPAZUniversidad Autónoma Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1321

Reference76 articles.

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2. Double phakomatosis; neurofibromatosis type-1 and tuberous sclerosis

3. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

4. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

5. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

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1. Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family;Calcified Tissue International;2023-06-06

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3. Severe Phenotype in Patients with Large Deletions of NF1;Cancers;2021-06-13

4. Renal manifestations in children with neurofibromatosis type 1;European Journal of Pediatrics;2021-06-06