Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N., Kosukcu C., Taskiran Z., Simsek K., Utine G., Gucer S., ...Daha Fazla

Fetal and pediatric pathology, cilt.39, sa.2, ss.163-171, 2020 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 39 Sayı: 2
• Basım Tarihi: 2020
• Doi Numarası: 10.1080/15513815.2019.1639089
• Dergi Adı: Fetal and pediatric pathology
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
• Sayfa Sayıları: ss.163-171
• Anahtar Kelimeler: Sengers syndrome, AGK, postmortem genetic testing, whole exome sequencing, MITOCHONDRIAL MYOPATHY, CONGENITAL CATARACT, AGK GENE, SKELETAL, MUSCLE, HEART
• Hacettepe Üniversitesi Adresli: Evet