@article{a06706143a4143a2a79967a8108df644,
title = "Emerging genotype-phenotype relationships in primary ciliary dyskinesia",
abstract = "Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.",
keywords = "Genotype-phenotype association, Molecular genetics, Primary ciliary dyskinesia",
author = "Brennan, {Steven K.} and Ferkol, {Thomas W.} and Davis, {Stephanie D.}",
note = "Funding Information: TWF: Currently or recently been supported by National Institutes of Health (NIH) awards HL096458, HL116211, HL125241, and AI46999, and the National Health and Medical Research Council (NHMRC1043768). He has received honoraria from the Cystic Fibrosis Foundation, and past funding for clinical and equipment trials from Parion Sciences and Aerocrine Pharmaceuticals. The views expressed do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S government; SDD: Supported by National Institutes of Health (NIH) award HL096458. She has served as a consultant for Parion Sciences.; The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) and supported by the RDCRN Data Management and Coordinating Center (DMCC) (U2CTR002818). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) funded through a collaboration between NCATS and National Heart, Lung, and Blood Institute (NHLBI). Funding Information: Funding: SKB: No funding disclosures.; TWF: Currently or recently been supported by National Institutes of Health (NIH) awards HL096458, HL116211, HL125241, and AI46999, and the National Health and Medical Research Council (NHMRC1043768). He has received honoraria from the Cystic Fibrosis Foundation, and past funding for clinical and equipment trials from Parion Sciences and Aerocrine Pharmaceuticals. The views expressed do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S government; SDD: Supported by National Institutes of Health (NIH) award HL096458. She has served as a consultant for Parion Sciences.; The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) and supported by the RDCRN Data Management and Coordinating Center (DMCC) (U2CTR002818). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) funded through a collaboration between NCATS and National Heart, Lung, and Blood Institute (NHLBI). Publisher Copyright: {\textcopyright} 2021 by the authors. Licensee MDPI, Basel, Switzerland.",
year = "2021",
month = aug,
day = "1",
doi = "10.3390/ijms22158272",
language = "English",
volume = "22",
journal = "International Journal of Molecular Sciences",
issn = "1661-6596",
number = "15",
}