The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Nisreen RummanMahmoud 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 WhewayHannah M MitchisonJane S A LucasPublished 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.