2022
Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM
Tuysuz B, Department of Pediatric Genetics I, Sencicek A, Ozer E, Goc N, Yalcinkaya C, Bilguvar K, Department of Neurosurgery P, Department of Neurology I. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. Turkish Archives Of Pediatrics 2022, 57: 521-525. PMID: 35950747, PMCID: PMC9524456, DOI: 10.5152/turkarchpediatr.2022.22070.Peer-Reviewed Original ResearchWhole-exome sequencingL1 syndromeSevere phenotypeMissense mutationsHemizygous missense mutationClinical characteristicsDifferential diagnosisIndex patientsPatientsCarrier mothersPathogenic missense mutationsMale childrenL1CAM mutationsPathogenic variantsMild formHydrocephalusSpeech delaySyndromeExon 18Truncating mutationsGenetic etiologyIntellectual disabilityL1CAML1CAM geneFamily members
2015
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
Per H, Canpolat M, Bayram A, Ulgen E, Baran B, Kardas F, Gumus H, Kumandas S, Bilguvar K, Çağlayan A. Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. Neuropediatrics 2015, 46: 420-423. PMID: 26479764, DOI: 10.1055/s-0035-1565275.Peer-Reviewed Original ResearchConceptsPeripheral neuropathyTangier diseaseLipid electrophoresisHigh-density lipoprotein levelsPlasma high-density lipoprotein levelsCassette transporter 1 (ABCA1) geneWhole-exome sequencingLike neuropathyPediatric patientsFemale patientsHDL cholesterolLipoprotein levelsSystemic findingsHDL levelsDifferential diagnosisAsymptomatic sisterNeuropathyPatientsTransporter 1 geneDiagnostic testsExome sequencingAdolescent girlsDiagnosisGenetic featuresGenetic diagnosis