2013
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan A. A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? Genetic Counseling 2013, 24: 283-9. PMID: 24341143.Peer-Reviewed Original ResearchConceptsAndermann syndromeCorpus callosumCortical electrical activityAutosomal recessive disorderPeripheral neuropathyProgressive neuropathySevere neuropathyYear old Turkish boyNew patientsPsychiatric symptomsExtracellular ion concentrationsClinical attentionConsanguineous parentsImaging studiesNeuropathySyndromeThird decadeRecessive disorderElectrical activityMental retardationDysmorphic characteristicsAreflexiaTurkish boyAgenesisCallosum
2008
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 2008, 9: 119-125. PMID: 18322713, DOI: 10.1007/s10048-008-0121-9.Peer-Reviewed Original ResearchConceptsNeurotrophic tyrosine kinase receptor type 1Autonomic neuropathy type IVHSAN IVHereditary sensoryNTRK1 geneTurkish populationFounder mutationType IVReceptor type 1Nerve growth factorSplice site mutationAutosomal recessive disorderCongenital insensitivityNovel frameshift mutationSame splice site mutationNTRK1 mutationsNoxious stimuliType 1Motor developmentSweat glandsGrowth factorNovel nonsense mutationRecessive disorderSpectrum of mutationsAnhidrosis