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Quoted phrase not found in phrase index: "Nystagmus, congenital, autosomal recessive"
Page 1
The neurology of carbonic anhydrase type II deficiency syndrome.
Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26.
Brain. 2011.
PMID: 22120147
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. ...Saccadic abnormalities were present in two, while half of these patients had …
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including ost …
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D.
Zelinger L, et al.
Ophthalmology. 2015 May;122(5):997-1007. doi: 10.1016/j.ophtha.2014.11.025. Epub 2015 Jan 21.
Ophthalmology. 2015.
PMID: 25616768
PURPOSE: Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and photoaversion. ...Retinal structural results support the candidacy of CNGA3 ACHM …
PURPOSE: Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, red …
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TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X.
Li X, et al.
BMC Pediatr. 2019 Jul 11;19(1):233. doi: 10.1186/s12887-019-1608-2.
BMC Pediatr. 2019.
PMID: 31296181
Free PMC article.
BACKGROUND: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. ...Additionally, he presented with thromboc …
BACKGROUND: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by t …
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