Atıf İçin Kopyala
Kaymakcalan H., Kaya I., Binici N. C., Nikerel E., Ozbaran B., Aksoy M. G., ...Daha Fazla
MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.9, 2021 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
9
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Basım Tarihi:
2021
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Doi Numarası:
10.1002/mgg3.1739
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Dergi Adı:
MOLECULAR GENETICS & GENOMIC MEDICINE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
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Anahtar Kelimeler:
autism spectrum disorder, macrocephaly, mutation, prevalence, PTEN, TUMOR-SUPPRESSOR, GERMLINE MUTATIONS, COWDEN SYNDROME, GENE, INDIVIDUALS, PHOSPHATASE, PROTEIN, DOMAIN
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İstanbul Üniversitesi Adresli:
Evet
Özet
Background: 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.