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Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins
Ophthalmic Genetics
◽
10.1080/13816810.2021.1925929
◽
2021
◽
pp. 1-7
Author(s):
Angela Y. Zhu
◽
Gregory Costain
◽
Cheryl Cytrynbaum
◽
Rosanna Weksberg
◽
Ronald D. Cohn
◽
...
Keyword(s):
Anterior Segment
◽
Monozygotic Twins
◽
Anterior Segment Dysgenesis
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References
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Ophthalmic Genetics
◽
10.1080/13816810.2021.1888133
◽
2021
◽
pp. 1-4
Author(s):
Frances Wu
◽
Paula C. Goldenberg
◽
Shizuo Mukai
Keyword(s):
Retinal Detachment
◽
Congenital Anomalies
◽
Anterior Segment
◽
Multiple Congenital Anomalies
◽
Tractional Retinal Detachment
◽
Anterior Segment Dysgenesis
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Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis
Ophthalmic Genetics
◽
10.1080/13816810490902684
◽
2004
◽
Vol 25
(4)
◽
pp. 277-283
◽
Cited By ~ 1
Author(s):
S.M. Quinn
◽
G.C.M. Black
◽
S. Biswas
◽
J. Clayton-Smith
◽
I.C. Lloyd
Keyword(s):
Autosomal Dominant
◽
Anterior Segment
◽
Anterior Segment Dysgenesis
Download Full-text
Corneal Coloboma, Aphakia and Retinal Neovascularization with Anterior Segment Dysgenesis (Peters’ Anomaly)
Ophthalmologica
◽
10.1159/000310747
◽
1996
◽
Vol 210
(6)
◽
pp. 361-366
◽
Cited By ~ 7
Author(s):
Charlise A. Gunderson
◽
Robert Stone
◽
Robert Peiffer
◽
Sharon Freedman
Keyword(s):
Anterior Segment
◽
Retinal Neovascularization
◽
Anterior Segment Dysgenesis
◽
Peters Anomaly
Download Full-text
Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis
Acta Ophthalmologica
◽
10.1111/aos.13053
◽
2016
◽
Vol 95
(5)
◽
pp. 537-541
◽
Cited By ~ 1
Author(s):
Anastasia V. Pilat
◽
Viral Sheth
◽
Ravi Purohit
◽
Frank A. Proudlock
◽
Samira Anwar
◽
...
Keyword(s):
Optical Coherence Tomography
◽
Anterior Segment
◽
Optical Coherence
◽
Tomography Imaging
◽
Anterior Segment Dysgenesis
◽
Optical Coherence Tomography Imaging
Download Full-text
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p
Journal of American Association for Pediatric Ophthalmology and Strabismus
◽
10.1016/j.jaapos.2012.05.008
◽
2012
◽
Vol 16
(5)
◽
pp. 473-475
Author(s):
Ozlem Dikmetas
◽
Pelin Ozlem Simsek Kiper
◽
Mehmet C. Mocan
◽
Eda G. Utine
◽
Koray Boduroglu
◽
...
Keyword(s):
Anterior Segment
◽
Partial Trisomy
◽
Partial Monosomy
◽
Anterior Segment Dysgenesis
Download Full-text
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis
Clinical Chemistry and Laboratory Medicine (CCLM)
◽
10.1515/cclm-2017-1106
◽
2019
◽
Vol 57
(4)
◽
pp. e63-e66
Author(s):
Barbara Lombardo
◽
Carlo Ceglia
◽
Francesco Verdesca
◽
Andrea Vitale
◽
Carla Perrotta
◽
...
Keyword(s):
Anterior Segment
◽
Compound Heterozygous Mutation
◽
Heterozygous Mutation
◽
Compound Heterozygous
◽
Cgh Array
◽
Anterior Segment Dysgenesis
◽
Cyp1b1 Gene
Download Full-text
Anterior Segment Dysgenesis
Encyclopedia of Ophthalmology
◽
10.1007/978-3-540-69000-9_100112
◽
2018
◽
pp. 144-144
Keyword(s):
Anterior Segment
◽
Anterior Segment Dysgenesis
Download Full-text
Cataract in Childhood Glaucoma and Anterior Segment Dysgenesis
Atlas of Pediatric Cataract
◽
10.1007/978-981-13-6939-1_11
◽
2019
◽
pp. 103-114
Author(s):
Sudarshan Kumar Khokhar
◽
Yogita Gupta
◽
Abhidnya Surve
◽
Chirakshi Dhull
Keyword(s):
Anterior Segment
◽
Anterior Segment Dysgenesis
Download Full-text
Congenital Glaucoma and Anterior Segment Dysgenesis
10.1007/978-981-16-0212-2_15
◽
2021
◽
pp. 175-187
Author(s):
Chirakshi Dhull
◽
Sudarshan Kumar Khokhar
Keyword(s):
Anterior Segment
◽
Congenital Glaucoma
◽
Anterior Segment Dysgenesis
Download Full-text
PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment
Epstein's Inborn Errors of Development
◽
10.1093/med/9780199934522.003.0101
◽
2016
◽
pp. 727-731
Author(s):
Linda M. Reis
◽
Elena V. Semina
Keyword(s):
Congenital Cataract
◽
Anterior Segment
◽
Neurological Impairment
◽
Anterior Segment Dysgenesis
◽
Rieger Syndrome
Download Full-text
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