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Academic Journal

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Subjects: 0301 basic medicine; Heterozygote; PAX6 Transcription Factor

  • Source: PLoS OnePLoS ONE, Vol 17, Iss 11, p e0268149 (2022)PLoS ONE, Vol 17, Iss 11 (2022)Hall, H N, Bengani, H, Hufnagel, R B, Damante, G, Ansari, M, Marsh, J A, Grimes, G R, von

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Academic Journal

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Subjects: Adult; Male; 0301 basic medicine

  • Source: PLoS GenetPLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)Genomic Ascertainment Cohort 2019, 'Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic

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Academic Journal

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Subjects: Animals; Anophthalmos/genetics; Base Pairing/genetics

  • Source: PLoS OnePLoS ONE, Vol 5, Iss 5, p e10565 (2010)Plos One, vol. 5, no. 5, pp. e10565Chao, R, Nevin, L, Agarwal, P, Riemer, J, Bai, X, Delaney, A, Akana, M, JimenezLopez, N, Bardakjian,

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Academic Journal

A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

Subjects: 0301 basic medicine; Fibrillin-2; Microfilament Proteins

  • Source: PLoS GenetPLOS GENETICSPLoS Genetics, Vol 9, Iss 12, p e1003998 (2013)Rainger, J, Keighren, M, Keene, D R, Charbonneau, N L, Rainger, J K, Fisher, M, Mella, S, Huang, J T-J, Rose, L,

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