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American journal of medical genetics. Part A, 12/2018
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2014, Volume 99, Issue 10, pp. E2046 - E2050
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2018, Volume 26, Issue 4, pp. 599 - 603
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 43 - 49
Biallelic loss of function variants in the TMCO1 gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The... 
cerebrofaciothoracic dysplasia | intellectual disability | TMCO1 | DEFECT SYNDROME | GENETICS & HEREDITY | Dysplasia | Phenotypes | Scoliosis | Intellectual disabilities | Patients
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 23
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue 9, p. 916
Background The pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unknown, but studies suggest a genetic component. We estimated the... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2014, Volume 99, Issue 10, pp. E2046 - E2050
Journal Article
BMC Research Notes, ISSN 1756-0500, 2011, Volume 4, Issue 1, pp. 72 - 72
Single Nucleotide Polymorphisms (SNPs) in intron 2 of the Fibroblast Growth Factor Receptor Type 2 (FGFR2) gene, including rs2981582, contribute to... 
Physiological aspects | Breast cancer | Genetic aspects | Research | Genes | Fibroblast growth factor receptors | Proteins | Studies | Medical research | Kinases
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2005, Volume 280, Issue 9, pp. 8482 - 8493
Journal Article
Journal of the Endocrine Society, ISSN 2472-1972, 07/2018, Volume 2, Issue 7, pp. 806 - 816
Germline mutations are reported in a minority of pheochromocytoma/paraganglioma (PPGL) cases but are associated with an increased risk of malignancy, leading... 
Journal Article