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Quoted phrase not found in phrase index: "Oculodentodigital dysplasia, autosomal recessive"
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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
Li X, Xiao X, Li S, Ouyang J, Sun W, Liu X, Zhang Q. Li X, et al. Mol Vis. 2021 May 13;27:309-322. eCollection 2021. Mol Vis. 2021. PMID: 34035645 Free PMC article.
PURPOSE: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindness is a frequent complication of the ocular phenotype. ...All truncations downstream of the connexin domain are associated with autosomal …
PURPOSE: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindnes …