Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference5 articles.
1. A revised and extended classification of the distal arthrogryposes;Bamshad;Am J Med Genet,1996
2. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): Case report and literature review;Carlos;Oral Dis,2005
3. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8;Tyodemir;Am J Med Genet Part A,2006
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1. Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene;Neuromuscular Diseases;2023-10-30
2. Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report;Oral Science International;2018-07
3. Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder;European Journal of Medical Genetics;2017-06
4. Trismus-Pseudocamptodactyly Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
5. Integrative transcriptomics and proteomics analysis of longissimus dorsi muscles of Canadian double-muscled Large White pigs;Gene;2016-02
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