MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

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Atıf İçin Kopyala

Karaman V., Toksoy G., Karaman B., Kayserili Karabey H., Basaran S., Altunoglu U., ...Daha Fazla

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.82, sa.2, ss.116-122, 2019 (ESCI)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 82 Sayı: 2
• Basım Tarihi: 2019
• Doi Numarası: 10.26650/iuitfd.422258
• Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
• Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.116-122
• İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Craniosynostosis (CS) associated genes (FGFR1-3, TWIST1, MSX2, POR, FREM1 and RAB23) were investigated in order to determine the mutation rates and establish an effective flow chart for molecular genetic diagnosis for syndromic (SCS) and non-syndromic craniosynostosis (NSCS).