Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelicWDR35mutations-Reference-Cited by-同舟云学术

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelicWDR35mutations

Published:2017-11-14 Issue:4 Volume:110 Page:376-381
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Walczak-Sztulpa Joanna¹^ORCID,Wawrocka Anna¹^ORCID,Swiader-Lesniak Anna²,Socha Magdalena¹,Jamsheer Aleksander¹,Drozdz Dorota³,Latos-Bielenska Anna¹,Zachwieja Katarzyna³

Affiliation:

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

2. Department of Anthropology; The Children's Memorial Health Institute; Warsaw Poland

3. Department of Pediatric Nephrology and Hypertension, Faculty of Medicine; Jagiellonian University Medical College; Cracow Poland

Funder

Poznan University of Medical Sciences

Polish National Centre for Research and Development

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdr2.1151/fullpdf

Reference24 articles.

1. Exome sequencing for the differential diagnosis of ciliary chondrodysplasia: Example of a WDR35 mutation case and review of the literature;Antony;European Journal of Medical Genetics.,2017

2. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome;Arts;Journal of Medical Genetics,2011

3. Arts , H. H. Knoers , N. 2013

4. WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype;Bacino;American Journal of Medical Genetics Part A,2012

5. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome casused by IFT140 compound heterozygous mutations;Bayat;Clinical Dysmorphology,2017

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1. 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

2. 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

3. Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease;Balkan Journal of Medical Genetics;2021-11-01

4. Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35;American Journal of Medical Genetics Part A;2021-01-09

5. Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings;Molecular Syndromology;2021