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Coloboma

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Translational animal model for genetic predisposition to anophthalmia/microphthalmia.
Coloboma
A review of the genetics and clinical manifestations of Donnai-Barrow syndrome.
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Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Coloboma
Zfp503 haploinsufficiency causes optic nerve coloboma in mice.
Coloboma
A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review.
Coloboma
Transcriptional profiling of extraocular motor neurons reveals <i>sim1a</i> as a candidate strabismus-related gene
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Congenital cystic eye and coloboma with a cyst hybrid phenotype: a developmental continuum.
Coloboma
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.
Coloboma
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.
Coloboma
Spectrum of Ophthalmic Disorders in Prader-Willi Syndrome: Implications for Early Screening and Multidisciplinary Management
Coloboma

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