Resource Type

Journal Article 4

Year

2021 2

Keywords

primary ciliary dyskinesia 3

PRRT2 1

CFAP54 1

DNAH10 1

bronchiectasis 1

cilia 1

genetic sequencing 1

infantile convulsions 1

mice 1

motile cilia 1

mutation 1

neurofibromatosis 1

paroxysmal kinesigenic dyskinesia 1

penetrance 1

transmission electron microscopy 1

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Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Frontiers of Medicine 2021, Volume 15, Issue 6,   Pages 877-886 doi: 10.1007/s11684-021-0863-4

Abstract: Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia

Keywords： penetrance     PRRT2     paroxysmal kinesigenic dyskinesia     infantile convulsions    

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Frontiers of Medicine   Pages 957-971 doi: 10.1007/s11684-023-0988-8

Abstract: Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms.

Keywords： DNAH10     mice     motile cilia     mutation     primary ciliary dyskinesia    

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Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Frontiers of Medicine doi: 10.1007/s11684-023-0997-7

Abstract: Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder.

Keywords： primary ciliary dyskinesia     CFAP54     cilia    

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Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

Frontiers of Medicine 2021, Volume 15, Issue 6,   Pages 933-937 doi: 10.1007/s11684-021-0860-7

Abstract: early-onset wet cough, sinusitis, and sperm quality decline, we considered the possibility of primary ciliary dyskinesia

Keywords： primary ciliary dyskinesia     neurofibromatosis     bronchiectasis     transmission electron microscopy     genetic    

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Title Author Date Type Operation

Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Journal Article

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Journal Article

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

Journal Article

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

Journal Article