Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome
- PMID: 33433911
- DOI: 10.1111/ahg.12413
Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome
Comment in
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Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome".Ann Hum Genet. 2021 May;85(3-4):103-104. doi: 10.1111/ahg.12420. Epub 2021 Apr 5. Ann Hum Genet. 2021. PMID: 33817793 No abstract available.
Comment on
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Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.Ann Hum Genet. 2021 Jan;85(1):27-36. doi: 10.1111/ahg.12401. Epub 2020 Jul 20. Ann Hum Genet. 2021. PMID: 32686083
References
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- Digilio, M. C., Calcagni, G., De Luca, A., Guida, V., & Marino, B. (2020). Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome. The Journal of Pediatrics, 218, 263-264. https://doi.org/10.1016/j.jpeds.2019.10.050
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- Digilio, M. C., Marino, B., Ammirati, A., Borzaga, U., Giannotti, A., & Dallapiccola, B. (1999). Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia. American Journal of Medical Genetics, 84(4), 350-356. https://doi.org/10.1002/(SICI)1096-8628(19990604)84:4-350::AID-AJMG8-3.0...
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- Digilio, M. C., Pugnaloni, F., Luca, A. D., Calcagni, G., Baban, A., Dentici, M. L., … Marino, B. (2019). Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. Clinical Genetics, 95(2), 268-276. https://doi.org/10.1111/cge.13375
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- Gumus, E., Tuncez, E., Oz, O., & Guvenc, M. S. (2020). Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of Human Genetics. https://doi.org/10.1111/ahg.12401
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