CorrectionBraz J Med Biol Res 2011; 44(8): 793-800Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome
نویسندگان
چکیده
منابع مشابه
Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.
Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of...
متن کاملLinkage analysis in Marfan syndrome.
We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus.
متن کاملJ Cell Biol 2011 Wemmer
The Rockefeller University Press $30.00 J. Cell Biol. Vol. 192 No. 2 295–306 www.jcb.org/cgi/doi/10.1083/jcb.201007018 JCB 295 Correspondence to Greg Odorizzi: [email protected] Abbreviations used in this paper: DIC, differential interference contrast; ESCRT, endosomal sorting complex required for transport; ILV, intralumenal vesicle; MIT, microtubule interacting and trafficking; MVB, multi...
متن کاملPreimplantation Genetic Diagnosis in Marfan Syndrome
Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection. We describe a case of a 32-year-old Caucasian woman, clinically asymptomatic with MFS who presented for genetic consultation to prevent the transmission of disease to her offspring. She underwent controlled ovarian stimulation (CO...
متن کاملDIFFUSE ARTER IAL ECTASIA IN MARFAN SYNDROME
A 22 year old male referred with palpitation. General appearance and physical exam impressed us in that the patient has Marfan syndrome. Cardiac catheterization showed diffuse arterial ectasia. We found no previous report of this generalized diffuse ectasia.
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ژورنال
عنوان ژورنال: Brazilian Journal of Medical and Biological Research
سال: 2011
ISSN: 0100-879X
DOI: 10.1590/s0100-879x2011001000014