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Quoted phrase not found in phrase index: "Myopia 23, autosomal recessive"
Page 1
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965.
Int J Mol Sci. 2022.
PMID: 36499293
Free PMC article.
Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. ...The patients had Riggs a …
Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel …
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB.
Van Maldergem L, et al.
Neurology. 2008 Nov 11;71(20):1602-8. doi: 10.1212/01.wnl.0000327822.52212.c7. Epub 2008 Aug 20.
Neurology. 2008.
PMID: 18716235
Free article.
RESULTS: An expanded clinical spectrum of a syndrome comprising facial dysmorphia (enlarged anterior fontanelles, downward slant of palpebral fissures, prominent root of the nose), a connective tissue disorder (inguinal hernia, hip dislocation, high myopia), and neurologic …
RESULTS: An expanded clinical spectrum of a syndrome comprising facial dysmorphia (enlarged anterior fontanelles, downward slant of palpebra …
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