Congenital glaucoma as a presenting feature of Rubinstein-Taybi
Por um escritor misterioso
Last updated 24 fevereiro 2025
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Infantile glaucoma in Rubinstein–Taybi syndrome
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Ocular examination in 24 patients with Rubinstein-Taybi syndrome
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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Hypoplastic thumb, Radiology Case
Congenital Glaucoma - Europe - American Academy of Ophthalmology
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Bibliography on Rubinstein‐Taybi syndrome - Hennekam - 1990 - American Journal of Medical Genetics - Wiley Online Library
Congenital Glaucoma - Europe - American Academy of Ophthalmology
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Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A
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Primary Congenital Glaucoma: 2004 Update Journal of Pediatric Ophthalmology & Strabismus
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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