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Clinical variability in two Macedonian families with Arterial tortuosity syndrome Cover

Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 1 (June 2018)
By: M Kocova,  R Kacarska,  K Kuzevska-Maneva,  S Prijic,  M Lazareska,  C Dordoni,  M Ritelli and  M Colombi  
Open Access
|Oct 2018
Figures & tables

Figures & Tables

Figure 1

Color-coded volume rendering of the brain and neck CT-angiography of P1 with marked tortuosity of the cerebral arteries (black arrows) shown at different cross-sectional levels (A and B) and vertebral arteries (white arrows) shown in sagittal sections (C and D).

Figure 2

Computed tomography angiography of the aortic arch of P1 (A-D). Right subclavian artery (RSA) and right common carotid artery (RCCA) emerge from a right innominate artery, which is the first aortic arch branch (black arrows); left common carotid artery (LCCA) (marked with an asterisk) is the second and left subclavian artery (LSA) is the third aortic arch branch.

Figure 3

Molecular characterization. Sequencing of SLC2A10 exons and splice junctions revealed the following: P1 was homozygous for the c.254T>C, p.(Leu85Pro) missense mutation and P2 was homozygous for the recurrent c.685C>T, p.(Arg229*) nonsense mutation.

Figure 4

Family pedigree of P1. Children affected by ATS are shown in black, P1 is identified by an arrow.
DOI: https://doi.org/10.2478/bjmg-2018-0009 | Journal eISSN: 2199-5761
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Language: English
Page range: 47 - 52
Published on: Oct 29, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Arterial tortuosity syndrome (ATS),
Cerebral artery,
Consanguinity,
Phenotype variability,
SLC2A10 gene mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2018 M Kocova, R Kacarska, K Kuzevska-Maneva, S Prijic, M Lazareska, C Dordoni, M Ritelli, M Colombi, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 21 (2018): Issue 1 (June 2018)
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