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

Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating thoracic dysplasia (JATD), Mainzer-Saldino syndrome (...

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Hoofdauteurs: 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, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2022-07-01
Reeks:Frontiers in Genetics
Onderwerpen:
IFT140
skeletal ciliopathy
cilium phenotype
MZSDS-like features
CED-like features
Online toegang:https://www.frontiersin.org/articles/10.3389/fgene.2022.931822/full
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