From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age-Reference-Cited by-同舟云学术

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From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age

Published:2023-08-17 Issue:6 Volume:104 Page:711-712
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Gritti Michela M.¹,Pecoraro Luca¹²^ORCID,Ceol Monica³,Pietrobelli Angelo¹,Piacentini Giorgio¹,Anglani Franca³^ORCID,Brugnara Milena¹

Affiliation:

1. Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona Verona Italy

2. Department of Medicine University of Verona Verona Italy

3. Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine‐DIMED University of Padua Padua Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14417

Reference4 articles.

1. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

2. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

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