Alström syndrome with acanthosis nigricans: a case report and literature review

Autor: N, Akdeniz, S Gunes, Bilgili, S, Aktar, S, Yuca, O, Calka, A, Kilic, M, Kosem

Publikováno v: Genetic counseling (Geneva, Switzerland). 22(4)

Alström syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a0b4471a7cae4b955167356ea2f74b90
https://pubmed.ncbi.nlm.nih.gov/22303800

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Evaluation of Lymphocyte Subgroups in Children With Down Syndrome.

Autor: Yılmaz C; Department of Pediatrics, Yildirim Beyazit University, School of Medicine, Ankara, Turkey., Doğan M; Department of Pediatrics, YYU, School of Medicine, Van, Turkey doganmurat.md@gmail.com., Başarslan F; Department of Pediatrics, Mustafa Kemal University, School of Medicine, Hatay, Turkey., Yılmaz N; Department of Pediatrics, Yildirim Beyazit University, School of Medicine, Ankara, Turkey., Yuca S; Department of Pediatrics, Selcuk University, School of Medicine, Konya, Turkey., Bulan K; Department of Pediatrics, YYU, School of Medicine, Van, Turkey., Kaya A; Department of Pediatrics, Ataturk University, School of Medicine, Van, Turkey., Çaksen H; Department of Pediatrics, Necmettin Erbakan University, School of Medicine, Konya, Turkey.

Publikováno v: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis [Clin Appl Thromb Hemost] 2015 Sep; Vol. 21 (6), pp. 546-9. Date of Electronic Publication: 2013 Nov 14.