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Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
König AL, Sabir H, Strizek B, Gembruch U, Herberg U, Bertrand M, Grasshoff U, Wiegand G, Wiechers C, Bernis E, Reutter H, Müller A. König AL, et al. Am J Med Genet A. 2022 Feb;188(2):624-627. doi: 10.1002/ajmg.a.62540. Epub 2021 Oct 12. Am J Med Genet A. 2022. PMID: 34643041
In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clinical and later molecular diagnosis of Ayme-Gripp syndrome. In the postnatal course, the typical Ayme-Gripp syndrome-associated feature …
In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clini …
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.
Wang Q, Qin T, Tan H, Ding X, Lin X, Li J, Lin Z, Sun L, Lin H, Chen W. Wang Q, et al. Am J Med Genet A. 2022 Oct;188(10):2888-2898. doi: 10.1002/ajmg.a.62947. Epub 2022 Aug 11. Am J Med Genet A. 2022. PMID: 36097645
We collected detailed disease histories from, and performed comprehensive ophthalmic and systemic examinations in 269 patients with CCs; we then performed whole-exome sequencing. Pathogenicity assessments were evaluated using multiple predictive tools. The clinical validit …
We collected detailed disease histories from, and performed comprehensive ophthalmic and systemic examinations in 269 patients with CCs; we …
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP. Javadiyan S, et al. BMC Med Genet. 2017 May 8;18(1):52. doi: 10.1186/s12881-017-0414-7. BMC Med Genet. 2017. PMID: 28482824 Free PMC article.
Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing. Variants were assessed for segregation with the phenotype in the affected moth …
Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatr …