Clinical Utility Gene Card for: 3-M syndrome - Update 2013
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013156.pdf
Reference16 articles.
1. Clayton PE, Hanson D, Magee L et al: Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol 2012; 77: 335–342.
2. Hanson D, Murray PG, O'Sullivan J et al: Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet 2011; 89: 148–153.
3. Hanson D, Murray PG, Coulson T et al: Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol 2012; 49: 267–275.
4. Van der Wal G, Otten BJ, Brunner HG, van der Burgt I : 3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol 2001; 10: 241–252.
5. Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L : Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? Am J Med Genet 2011; 155: 1236–1245.
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1. Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from Turkey;2024-08-19
2. 3M syndrome: A Tunisian seven-cases series;European Journal of Medical Genetics;2022-03
3. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants;European Journal of Medical Genetics;2021-12
4. A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon;Clinica Chimica Acta;2020-08
5. Identification of two CUL7 variants in two Chinese families with 3‐M syndrome by whole‐exome sequencing;Journal of Clinical Laboratory Analysis;2020-03-06
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