Distinct phenotype but same genotype: Hints for the diversity of phenotypes in ciliopathies

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CASE REPORT

Published on 28 Mar 2025

Analysis of clinical and genetic features in a pediatric patient with Kartagener syndrome caused by compound heterozygous mutations in the DNAH5 gene: a case study and literature review

Jingli Zhang
Longfei Gao
Yu Xing
HuiFang Wu
Xiaojuan Liu
Yingqian Zhang

doi 10.3389/fmed.2025.1513370

927 views

ORIGINAL RESEARCH

Published on 20 Mar 2025

Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia

Mine Yuksel Kalyoncu
Rim Hjeij
Muruvvet Yanaz
Aynur Gulieva
Merve Selcuk Balcı
Şeyda Karabulut
Neval Metin Cakar
Almala Pınar Ergenekon
Ela Erdem Eralp
2 more
Bülent Taner Karadag

doi 10.3389/fmolb.2025.1547152

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Frontiers in Molecular Biosciences

Frontiers in Molecular Biosciences

Molecular Diagnostics and Therapeutics
Cellular Biochemistry
Protein Biochemistry for Basic and Applied Sciences

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Frontiers in Cell and Developmental Biology
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