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UnknownPeripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss.
Not available
S-EPMC6556091 | biostudies-literature
UnknownA recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Not available
S-EPMC5722175 | biostudies-literature
UnknownTargeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Not available
S-EPMC3262754 | biostudies-literature
UnknownALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Not available
S-EPMC3723310 | biostudies-literature
UnknownNovel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Not available
S-EPMC4326713 | biostudies-literature
UnknownIntragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.
Not available
S-EPMC12851817 | biostudies-literature
UnknownUser and Usability Testing of a Web-Based Genetics Education Tool for Parkinson Disease: Mixed Methods Study
Not available
S-EPMC11135229 | biostudies-literature
UnknownARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.
Not available
S-EPMC9995503 | biostudies-literature
UnknownBiochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
Not available
S-EPMC4409664 | biostudies-literature
UnknownReview of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Not available
S-EPMC9169870 | biostudies-literature
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