Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35-Reference-Cited by-同舟云学术

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

Published:2020-08-17 Issue:10 Volume:182 Page:2417-2425
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,Leszczynska Beata²,Mikulska Boyana³,Arts Heleen H.⁴⁵,Bukowska‐Olech Ewelina¹,Daniel Maria²,Krawczynski Maciej R.¹,Latos‐Bielenska Anna¹,Obersztyn Ewa⁶

Affiliation:

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

2. Department of Pediatric Nephrology Medical University of Warsaw Warsaw Poland

3. Department of Obstetrics and Gynecology Institute of Mother and Child Warsaw Poland

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

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

6. Department of Medical Genetics Institute of Mother and Child 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.61785

Reference23 articles.

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

2. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

3. Cranioectodermal dysplasia;Arts H.;GeneReviews,1993

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

5. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes ( SPAG17 and WDR35 ) in a patient with multiple brain and skeletal anomalies

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