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Ophthalmic Genetics Volume 36, 2015 - Issue 2
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Research Report

X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8)

Jonathan HanThe Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California
,
Jonathan W. YoungThe Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California
,
Ricardo F. FraustoThe Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California
,
Sherwin J. IsenbergThe Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California
&
Anthony J. AldaveThe Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaCorrespondence[email protected]
Pages 145-148 | Received 09 Jun 2013, Accepted 18 Aug 2013, Published online: 27 Sep 2013

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Rocio Arce-Gonzalez, Oscar F. Chacon-Camacho, Alejandro Navas-Perez, María C. Gonzalez-Gonzalez, Alan Martinez-Aguilar & Juan Carlos Zenteno. (2022) Novel CHRDL1 mutation causing X-linked megalocornea in a family with mild anterior segment manifestations in carrier females. Ophthalmic Genetics 43:2, pages 224-229.
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Articles from other publishers (8)

Lu Qin, Fei-Zhou Zhang, Jian-Hai Lv & Lan-Fang Tang. (2022) Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review. Journal of Clinical Research in Pediatric Endocrinology 14:3, pages 339-343.
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Tian-Hui Chen, Ze-Xu Chen, Min Zhang, Jia-Hui Chen, Li-Na Lan & Yongxiang Jiang. (2022) Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos. Frontiers in Medicine 9.
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Asima Hassan, YaserR Mir & RajaA H Kuchay. (2022) Ocular findings and genomics of X-linked recessive disorders: A review. Indian Journal of Ophthalmology 70:7, pages 2386.
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Aaron P. C. Ong, Jie Zhang, Andrea L. Vincent & Charles N. J. McGhee. (2021) Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review. Clinical & Experimental Ophthalmology 49:5, pages 477-497.
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Y. Louanchi, C. Mesnard & H. Merle. (2021) Luxation cristallinienne bilatérale chez un patient avec mégalocornée liée à l’X : à propos d’un cas. Journal Français d'Ophtalmologie 44:4, pages e219-e222.
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Di Chen, Yang Liu, Guanhua Shu, Chinfei Chen, David A. Sullivan, Wendy R. Kam, Steven Hann, Megan Fowler & Matthew L. Warman. (2020) Ocular Manifestations of Chordin-like 1 Knockout Mice. Cornea 39:9, pages 1145-1150.
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A.A. Kasyanov. (2020) Cataract surgery in megalocornea (case report). Vestnik oftal'mologii 136:5, pages 219.
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OH Gebril, SS Cheong, AJ Hardcastle, ER Abdelraouf & SR Eid. (2017) Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome. Journal of Neurology, Neurological Science and Disorders 3:1, pages 028-032.
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