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.



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