Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1-Reference-Cited by-同舟云学术

Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1

Published:2015-06 Issue:6-7 Volume:58 Page:332-335
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Corona-Rivera J. Román,Barrios-Prieto Ernesto,Nieto-García Rafael,Bloise Raffaella,Priori Silvia,Napolitano Carlo^ORCID,Bobadilla-Morales Lucina,Corona-Rivera Alfredo,Zapata-Aldana Eugenio^ORCID,Peña-Padilla Christian,Rivera-Vargas Jehú,Chavana-Naranjo Eva

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

1. Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome;An;J Korean Med Sci,2013

2. Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome;Dufendach;Pediatrics,2013

3. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome;Etheridge;Am J Med Genet A,2011

4. Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan;Horigome;Circ Arrhythm Electrophysiol,2010

5. Fetal presentation of long QT syndrome–evaluation of prenatal risk factors: a systematic review;Ishikawa;Fetal Diagn Ther,2013

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1. A Natural History Study of Timothy Syndrome;2024-05-21

2. International Cohort of Neonatal Timothy Syndrome;Neonatology;2024

3. Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics;Expert Reviews in Molecular Medicine;2023

4. Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review;Frontiers in Cardiovascular Medicine;2022-11-29

5. Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome;International Journal of Cardiovascular Sciences;2021-04-16