Somatic mosaicism contributes to phenotypic variation in Timothy syndrome-Reference-Cited by-同舟云学术

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

Published:2011-09-09 Issue:10 Volume:155 Page:2578-2583
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Etheridge Susan P.,Bowles Neil E.,Arrington Cammon B.,Pilcher Thomas,Rope Alan,Wilde Arthur A.M.,Alders Marielle,Saarel Elizabeth V.,Tavernier Rene,Timothy Katherine W.,Tristani-Firouzi Martin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Elements of morphology: Standard terminology for the head and face;Allanson;Am J Med Genet Part A,2009

2. Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly;Al-Qattan;J Hand Surg Br,2006

3. Elements of morphology: Standard terminology for the hands and feet;Biesecker;Am J Med Genet Part A,2009

4. Elements of morphology: Standard terminology for the periorbital region;Hall;Am J Med Genet Part A,2009

5. Elements of morphology: Standard terminology for the nose and philtrum;Hennekam;Am J Med Genet Part A,2009

Cited by 60 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Management of ultrarare inherited arrhythmia syndromes;Heart Rhythm;2024-08

2. Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling;PLOS ONE;2024-07-05

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

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

5. 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