Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated

doi:10.1515/bjmg-2017-0030

. 2017 Dec 29;20(2):91-94.

doi: 10.1515/bjmg-2017-0030. eCollection 2017 Dec.

Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated

Finsterer J, Stollberger C

PMID: 29876239
PMCID: PMC5972509
DOI: 10.1515/bjmg-2017-0030

Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated

Finsterer J et al. Balkan J Med Genet. 2017.

. 2017 Dec 29;20(2):91-94.

doi: 10.1515/bjmg-2017-0030. eCollection 2017 Dec.

Authors

Finsterer J, Stollberger C

PMID: 29876239
PMCID: PMC5972509
DOI: 10.1515/bjmg-2017-0030

No abstract available

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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. - PMC - PubMed
1. 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. - PubMed
1. Burke A, Mont E, Kutys R, Virmani R.. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol. 2005;36(4):403–411. - PubMed
1. 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. - PubMed
1. 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. - PubMed

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[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. - PMC - PubMed

[2] 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. - PMC - PubMed

[3] 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. - PubMed

[4] 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. - PubMed

[5] Burke A, Mont E, Kutys R, Virmani R.. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol. 2005;36(4):403–411. - PubMed

[6] Burke A, Mont E, Kutys R, Virmani R.. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol. 2005;36(4):403–411. - PubMed

[7] 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. - PubMed

[8] 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. - PubMed

[9] 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. - PubMed

[10] 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. - PubMed

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Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated

Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated

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