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Quoted phrase not found in phrase index: "Oculodentodigital dysplasia, autosomal recessive"
Page 1
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 …
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Taşdelen E, Durmaz CD, Karabulut HG. Taşdelen E, et al. Cytogenet Genome Res. 2018;154(4):181-186. doi: 10.1159/000489000. Epub 2018 Jun 15. Cytogenet Genome Res. 2018. PMID: 29902798 Free article. Review.
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ...This is the third family in the literature in which ODDD segregates in an autosomal recessive …
Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of t …
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. Hu Y, et al. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013. PLoS One. 2013. PMID: 23951358 Free PMC article.
Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. ...Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive …
Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. ...Gap junctions a …
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.
Gabriel LA, Sachdeva R, Marcotty A, Rockwood EJ, Traboulsi EI. Gabriel LA, et al. Arch Ophthalmol. 2011 Jun;129(6):781-4. doi: 10.1001/archophthalmol.2011.113. Arch Ophthalmol. 2011. PMID: 21670345
OBJECTIVES: To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the connexin 43 transmembrane domain. DESIGN: Oculodentodigital dysplasia is a rare autosomal dominant disease characterized b …
OBJECTIVES: To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the con …