Syndromic ciliopathy: a taiwanese single-center study
Syndromic ciliopathy: a taiwanese single-center study
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology among these disorders is defective ciliary functions or formation. Many different genes have been implicat...
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Full title
Syndromic ciliopathy: a taiwanese single-center study
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_73060ee9b5c9490996048dfd21858c78
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_73060ee9b5c9490996048dfd21858c78
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-01880-0
