<i>WDR35</i> variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy-Reference-Cited by-同舟云学术

WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy

Published:2022-07-25 Issue:10 Volume:188 Page:3071-3077
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Walczak‐Sztulpa Joanna¹^ORCID,Wawrocka Anna¹^ORCID,Sikora Weronika²,Pawlak Marta³,Bukowska‐Olech Ewelina¹^ORCID,Kopaczewski Bartłomiej⁴,Urzykowska Agnieszka⁵,Arts Heleen H.⁶⁷,Gotz‐Więckowska Anna³,Grenda Ryszard⁵,Latos‐Bieleńska Anna¹,Glazar Renata⁸

Affiliation:

1. Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland

2. Students' Scientific Society of Medical Genetics Poznan University of Medical Sciences Poznan Poland

3. Department of Ophthalmology Poznan University of Medical Sciences Poznan Poland

4. Department of Neurosurgery, Karol Jonscher Clinical Hospital Poznan University of Medical Sciences Poznan Poland

5. Department of Nephrology, Kidney Transplantation and Hypertension The Children's Memorial Health Institute Warsaw Poland

6. Department of Pathology and Laboratory Medicine Dalhousie University Halifax Nova Scotia Canada

7. IWK Health Centre Clinical Genomics Laboratory Halifax Nova Scotia Canada

8. Centers for Medical Genetics GENESIS Poznan Poland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62903

Reference30 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

3. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

4. WDR35mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

5. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations

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1. Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants;Frontiers in Molecular Biosciences;2023-12-12

2. Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature;BMC Pediatrics;2023-08-18