Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes-Reference-Cited by-同舟云学术

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Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

Published:2016-09-21 Issue:1 Volume:5 Page:
ISSN:2193-1801
Container-title:SpringerPlus
language:en
Short-container-title:SpringerPlus

Author:

Iwanicka-Pronicka Katarzyna,Socha Magdalena,Jędrzejowska Maria,Krajewska-Walasek Małgorzata,Jamsheer Aleksander

Funder

Polish National Science Centre

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://link.springer.com/content/pdf/10.1186/s40064-016-3275-1.pdf

Reference16 articles.

1. Alby C, Bessieres B, Bieth E, Attie-Bitach T, Fermont L, Citony I, Razavi F, Vekemans M, Escande F, Manouvrier S, Malan V, Amiel J (2013) Contiguous gene deletion of TBX5 and TBX3 leads to a variable phenotype with combined features of Holt–Oram and ulnar-mammary syndromes. Am J Med Genet A 161A(7):1797–1802. doi: 10.1002/ajmg.a.36054

2. Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde L (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nature Genet 16:311–315

3. Basson CT, Bachinsky DR, Lin RC (1997) Mutations in human TBX5 cause limb and cardiac malformation in Holt–Oram syndrome. Nature Genet 15:30–35

4. Boehme DH, Shotar AO (1989) A complex deformity of appendicular skeleton and shoulder with congenital hear t disease in three generations of a Jordanian family. Clin Genet 36:442–450

5. Bogarapu S, Bleyl SB, Calhoun A, Viskochil D, Saarel EV, Everitt MD, Frank DU (2014) Phenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrum. Am J Med Genet A 164A(5):1304–1309. doi: 10.1002/ajmg.a.36447

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3. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype;European Journal of Medical Genetics;2021-07

4. TBX5 ‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death;American Journal of Medical Genetics Part A;2020-12-23

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