Associated Papers
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.
Xu Y et al.
Cureus, 2024
The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings.
Alhalabi O et al.
Cureus, 2024
Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.
Henriques AR et al.
Pediatric Pulmonology, 2021
Establishment of an induced pluripotent stem cell line from a patient with primary ciliary dyskinesia carrying biallelic mutations in CCNO.
Xu X et al.
Stem Cell Research, 2021
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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