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Update on the Toriello-Carey syndrome

Published:2016-08-11 Issue:10 Volume:170 Page:2551-2558
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Toriello Helga V.¹²,Colley Chelsey²,Bamshad Michael³

Affiliation:

1. Medical Genetics; Spectrum Health Hospital; Michigan State University; Grand Rapids Michigan

2. College of Human Medicine; Michigan State University; Grand Rapids Michigan

3. Division of Medical Genetics; University of Washington; Seattle Washington

Funder

NIH National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference38 articles.

1. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations;Basel-Vanagaite;Hum Genet,2014

2. De novo microdeletions of chromosome 6q14. 1-q14. 3 and 6q12. 1- q14. 1 in two patients with intellectual disability- further delineation of the 6q14 microdeletion syndrome and review of the literature;Becker;Eur J Med Genet,2012

3. Diagnostic clinical genome and exome sequencing;Biesecker;N Eng J Med,2014

4. Microdeletion del(22)(q12.1) excluding the MN1 gene in a patients with craniofacial anomalies;Bosson;Am J Med Genet Part A,2016

5. A new syndrome: Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies, and developmental delay;Braddock;Clin Dysmorph,1994

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2. Translation initiation and dysregulation of initiation factors in rare diseases;Gene Reports;2023-03

3. A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia;Cureus;2022-06-14

4. Toriello-Carey Syndrome;Genetic Syndromes;2022

5. The Fine Art of Writing a Message: RNA Metabolism in the Shaping and Remodeling of the Nervous System;Frontiers in Molecular Neuroscience;2021-11-30

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