Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation
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Published:2024-12
Issue:12
Volume:19
Page:5754-5757
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ISSN:1930-0433
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Container-title:Radiology Case Reports
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language:en
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Short-container-title:Radiology Case Reports
Author:
Al-Obaidi Ahmed DheyaaORCID,
Al-Obiade Reem,
Al-Fatlawi NabeelORCID,
Al-Badri Sajjad GhanimORCID,
Al-Musawi Mustafa,
Hashim Hashim TalibORCID,
Al-Zeena Asma,
Al-Obaidi Mustafa Najah,
Hashim Ahmed Shamil,
Al-Awad Abdullah
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3. DYNC2H1mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am J Hum Genet,2009
4. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome;Parisi;Am J Hum Genet,2004
5. Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport [published correction appears in Nat Commun. 2016;29(7):11270. doi:10.1038/ncomms11270]. Nat Commun 2015;6:7074. Published 2015 Jun 5. doi:10.1038/ncomms8074.