ESPE Abstracts

Background/Objectives: Neurofibromatosis 1 (NF1) is a dominantly inherited genetic disorder, caused by germline pathogenic variants in NF1 gene. The protein product of NF1 is neurofibromin, which acts as a tumor suppressor protein regulating the RAS signaling pathway. We describe the mutational spectrum and clinical presentation of NF1 children, which will aid the understanding of genotype-phenotype correlations.<strong...

Background: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydroc...