A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2017.06.006
Abstract: Purpose The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with… read more here.
Keywords: factor gdf3; differentiation factor; female unilateral; unilateral anophthalmia ... See more keywords
Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2086330
Abstract: Abstract Background: Neuroglial heterotopia, characterized by mature neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. Case Report: A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial… read more here.
Keywords: unilateral anophthalmia; neuroglial heterotopia; heterotopia; anophthalmia congenital ... See more keywords