AB081. Variable major phenotypes in familial Marfan syndrome in Indonesia: a case report

BACKGROUND: Mutations in FBN1 gene can cause Marfan syndrome (MFS), in which 25% of cases are familial type. Affected persons show varying patterns of organ system involvements including ocular, skeletal, cardiovascular, pulmonary, dural and cutaneous manifestation. Although genotype-phenotype corre...

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Detaylı Bibliyografya
Yayımlandı:Ann Transl Med
Asıl Yazarlar: Maharani, Nani, Setyawati, Amallia N., Rifqi, Sodiqur, Sungkar, Muhammad A., Pals, Gerard, Faradz, Sultana MH
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: AME Publishing Company 2017
Konular:
Clinical Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641723/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s081
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