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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

dc.contributor.authorYalcinkaya, Leyla
dc.contributor.authorErcan-Sencicek, Adife Gulhan
dc.contributor.authorDurak, Sibel
dc.contributor.authorYararbas, Kanay
dc.contributor.authorKÖSE, SEZEN
dc.contributor.authorKaymakcalan, Hande
dc.contributor.authorKaya, Ilyas
dc.contributor.authorBinici, Nagihan Cevher
dc.contributor.authorNikerel, Emrah
dc.contributor.authorOzbaran, Burcu
dc.contributor.authorAksoy, Mehmet Gorkem
dc.contributor.authorErbilgin, Seda
dc.contributor.authorÖZYURT, GONCA
dc.contributor.authorJahan, Noor
dc.contributor.authorÇELİK, DİDEM
dc.date.accessioned2021-12-10T10:25:23Z
dc.date.available2021-12-10T10:25:23Z
dc.identifier.citationKaymakcalan H., Kaya I., Binici N. C. , Nikerel E., Ozbaran B., Aksoy M. G. , Erbilgin S., ÖZYURT G., Jahan N., ÇELİK D., et al., "Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly", MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.9, 2021
dc.identifier.issn2324-9269
dc.identifier.othervv_1032021
dc.identifier.otherav_3ec5ba48-77e1-4acf-a544-501ee1bfa7bf
dc.identifier.urihttp://hdl.handle.net/20.500.12627/169853
dc.identifier.urihttps://doi.org/10.1002/mgg3.1739
dc.description.abstractBackground: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectGenetics (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıp
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.titlePrevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
dc.typeMakale
dc.relation.journalMOLECULAR GENETICS & GENOMIC MEDICINE
dc.contributor.departmentDemiroglu Bilim University , ,
dc.identifier.volume9
dc.contributor.firstauthorID2694646


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