Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35-Reference-Cited by-同舟云学术

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

Published:2021-01-09 Issue:4 Volume:185 Page:1195-1203
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Walczak‐Sztulpa Joanna¹^ORCID,Wawrocka Anna¹^ORCID,Stańczyk Małgorzata²,Pesz Karolina³,Dudarewicz Lech⁴,Chrul Sławomir²,Bukowska‐Olech Ewelina¹,Wieczorek‐Cichecka Nina⁴,Arts Heleen H.⁵⁶,Oud Machteld M.⁷⁸,Śmigiel Robert⁹,Grenda Ryszard¹⁰,Obersztyn Ewa¹¹,Chrzanowska Krystyna H.¹²,Latos‐Bieleńska Anna¹

Affiliation:

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

2. Department of Pediatrics, Immunology and Nephrology Polish Mother's Memorial Hospital Research Institute Lodz Poland

3. Department of Genetics Wroclaw Medical University Wroclaw Poland

4. Department of Genetics Polish Mother's Memorial Hospital Research Institute Lodz Poland

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

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

7. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

8. Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands

9. Division of Pediatrics and Rare Disorders, Department of Pediatrics Wroclaw Medical University Wroclaw Poland

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

11. Department of Medical Genetics Institute of Mother and Child Warsaw Poland

12. Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland

Funder

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62067

Reference21 articles.

1. Inguinal Hernias and Hydroceles

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

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

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3. WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy;American Journal of Medical Genetics Part A;2022-07-25

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5. Primary cilia loss promotes reactivation of morphogenesis and cyst-fission through a deregulated TGFβ-ECM-Integrin axis in polycystic liver disease;2022-04-08