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
2011
Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.Peer-Reviewed Original Research