Familial coexistence of the association: Fabry's syndrome and congenital ptosis (Journal article)

Kitsos, G./ Rebapis, I./ Darlamitsou, L./ Bassioukas, K./ Psilas, K.

The authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents. The family pedigree consisted of 95 individuals, spanning 5 generations. Three individuals (males) were found to have Fabry syndrome and 14 (males and females) congenital ptosis. The patients with Fabry syndrome also had congenital ptosis. According to these results, Fabry syndrome is inherited by an X-linked recessive mode and congenital ptosis by an autosomal dominant mode.
Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Blepharoptosis/complications/congenital/*genetics,Fabry Disease/complications/*genetics,Female,Humans,Male,Pedigree
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/21634
ISSN: 0181-5512
Link: http://www.ncbi.nlm.nih.gov/pubmed/1779104
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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