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3 articles related to "Cranioectodermal Dysplasia"

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Articles

Original Research

Published on 07 Jul 2022

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

in Human and Medical Genomics

Joanna Walczak-Sztulpa
Anna Wawrocka
Cenna Doornbos
Ronald van Beek
Anna Sowińska-Seidler
Aleksander Jamsheer
Ewelina Bukowska-Olech
Anna Latos-Bieleńska
Ryszard Grenda
Ernie M. H. F. Bongers

Frontiers in Genetics

doi 10.3389/fgene.2022.931822

5,123 views
8 citations

Brief Research Report

Published on 12 Dec 2023

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

in Molecular Diagnostics and Therapeutics

Joanna Walczak-Sztulpa
Anna Wawrocka
Łukasz Kuszel
Paulina Pietras
Marta Leśniczak-Staszak
Mirosław Andrusiewicz
Maciej R. Krawczyński
Anna Latos-Bieleńska
Marta Pawlak
Ryszard Grenda

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2023.1285790

3,926 views
1 citation

Case Report

Published on 25 Feb 2022

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

in Pediatric Gastroenterology, Hepatology and Nutrition

Joanna Ryżko
Joanna Walczak-Sztulpa
Piotr Czubkowski
Anna Latos-Bieleńska
Adam Kowalski
Marek Stefanowicz
Wioletta Jarmużek
Ryszard Grenda
Joanna Pawłowska

Frontiers in Pediatrics

doi 10.3389/fped.2022.834064

4,243 views
7 citations