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Primary ciliary dyskinesia
? TBD
Medical condition
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Subclasses
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Kartagener syndrome
primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development
primary ciliary dyskinesia 33
primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the GAS8 gene on chromosome 16q24
primary ciliary dyskinesia 24
primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has material basis in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22
Subject of
4
Skeletal muscle metabolism in cystic fibrosis and primary ciliary dyskinesia
scientific article published on 01 January 2011
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus
scientific article published on 01 May 2019
Lung Function Longitudinal Study by Phenotype and Genotype in Primary Ciliary Dyskinesia
scientific article published on 12 February 2020
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
scientific article published on 10 November 2020
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Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do...

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class of disease
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Ciliopathy
Disease
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