The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Nisreen Rumman Mahmoud R FassadCorine DriessensPatricia GogginNader AbdelrahmanAdel AdwanMutaz AlbakriJagrati ChopraRegan DohertyBishara FashhoGrace M FrekeAbdallah HasaballahClaire L JacksonMai A MohamedReda Abu NemaMitali P PatelReuben J PengellyAhmad QaaqourBruna RubboN Simon ThomasJames ThompsonWoolf T WalkerGabrielle Wheway Hannah M Mitchison Jane S Lucas

Published in: ERJ open research (2023)

Despite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.

Keyphrases

early onset
genome wide
single cell
high throughput
quality improvement
gene expression
copy number
dna methylation