Balkan Journal of Medical Genetics

FEMALE AND MALE CARRIERS OF TAZ MUTATIONS NEED TO BE THOROUGHLY INVESTIGATED
Finsterer J*, Stollberger C
*Corresponding Author: Josef Finsterer, M.D., Ph.D., Krankenanstalt Rudolfstiftung, Postfach 20, 1180 Vienna, Austria. Tel: +43-1-71165. Fax. +43-1-4781711. E-mail: fifigs1@yahoo.de
page: 91

REFERENCES

1. Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V. A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. BJMG. 2017; 19(2): 95-100. 2. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006; 118(2): e337-46. 3. Burke A, Mont E, Kutys R, Virmani R. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol. 2005; 36(4): 403-411. 4. Woiewodski L, Ezon D, Cooper J, Feingold B. Barth Syndrome with late-onset cardiomyopathy: A missed opportunity for diagnosis. J Pediatr. 2017; 183: 196-198. 5. Stollberger C, Wegner C, Finsterer J. Fetal ventricular hypertrabeculation/noncompaction: Clinical presentation, genetics, associated cardiac and extracardiac abnormalities and outcome. Pediatr Cardiol. 2015; 36(7): 1319-1326. 6. Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, et al. Barth syndrome in a female patient. Mol Genet Metab. 2012; 106(1): 115-120. 7. Ferreira C, Thompson R, Vernon H. Barth Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., Eds. GeneReviews® [Internet]. Seattle, WA, USA: University of Washington, Seattle. 1993-2017 (Available from http://www. ncbi.nlm. nih.gov/books/NBK247162/). 8. Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013; 163C: 198-205.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact