Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Autor: Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 99-102 (2022)

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of

Externí odkaz: https://doaj.org/article/ef506da19f8b4495a3c4585d8958c60b

Salt-and-pepper appearance of the skin in systemic sclerosis.

Autor: Tasgöz FC; Division of Rheumatology, Celal Bayar University School of Medicine, Manisa, Turkey., Ali Acar E; Division of Rheumatology, Celal Bayar University School of Medicine, Manisa, Turkey., Kaçar M; Division of Rheumatology, Celal Bayar University School of Medicine, Manisa, Turkey., Soysal Gündüz Ö; Division of Rheumatology, Celal Bayar University School of Medicine, Manisa, Turkey., Uslu S; Division of Rheumatology, Celal Bayar University School of Medicine, Manisa, Turkey. Electronic address: sadouslu@gmail.com.

Publikováno v: Medicina clinica [Med Clin (Barc)] 2024 Jul 26; Vol. 163 (2), pp. e15. Date of Electronic Publication: 2024 Mar 27.

Biological treatment in elderly and young patients with ankylosing spondylitis: TURKBIO real-life data results.

Autor: Uslu S; Department of Internal Medicine, Division of Rheumatology, Celal Bayar University Faculty of Medicine, Manisa, Türkiye., Gülle S; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Urak Ö; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Şen G; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Dalkılıç E; Department of Internal Medicine, Division of Rheumatology, Uludağ University Faculty of Medicine, Bursa, Türkiye., Şenel S; Department of Internal Medicine, Division of Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Türkiye., Akar S; Department of Internal Medicine, Division of Rheumatology, Katip Çelebi University Faculty of Medicine, Izmir, Türkiye., İnanç N; Department of Internal Medicine, Division of Rheumatology, Marmara University Faculty of Medicine, Istanbul, Türkiye., Cefle A; Department of Internal Medicine, Division of Rheumatology, Kocaeli University Faculty of Medicine, Kocaeli, Türkiye., Köken Avşar A; Department of Internal Medicine, Division of Rheumatology, Kocaeli City Hospital, Kocaeli, Türkiye., Yolbaş S; Department of Internal Medicine, Division of Rheumatology, İnönü University Faculty of Medicine, Malatya, Türkiye., Yılmaz S; Department of Internal Medicine, Division of Rheumatology, Selçuk University Faculty of Medicine, Konya, Türkiye., Soysal Gündüz Ö; Department of Internal Medicine, Division of Rheumatology, Celal Bayar University Faculty of Medicine, Manisa, Türkiye., Sarı İ; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Birlik M; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Akkoç N; Department of Internal Medicine, Division of Rheumatology, Celal Bayar University Faculty of Medicine, Manisa, Türkiye., Önen F; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye.

Publikováno v: Archives of rheumatology [Arch Rheumatol] 2024 Mar 20; Vol. 39 (2), pp. 232-241. Date of Electronic Publication: 2024 Mar 20 (Print Publication: 2024).

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