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Ophthalmic Genetics Volume 33, 2012 - Issue 4
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Case Reports

Chromosome 6p25 Deletion Syndrome: Report of a case with optic disc coloboma and review of published ophthalmic findings

Francis BebyCorrespondence[email protected]
,
Vincent Des PortesDepartment of Paediatric Neurology, Femme Mère-Enfant Hospital, Bron, France
,
Marianne TillDepartment of Medical Genetics, Service de Cytogénétique constitutionnelle, Femme Mère-Enfant Hospital, Bron, France
,
Carmine MottoleseDepartment of Paediatric Neurosurgery, Pierre Wertheimer Hospital, Bron, France
&
Philippe DenisDepartment of Paediatric Ophthalmology, Femme Mère-Enfant Hospital, Bron, France
Pages 240-248 | Received 15 Sep 2011, Accepted 21 Feb 2012, Published online: 12 Apr 2012

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Katsuhiro Hosono, Kazuhide Kawase, Kentaro Kurata, Yusuke Niimi, Hirotomo Saitsu, Shinsei Minoshima, Hidenori Ohnishi, Takahiro Yamamoto, Akiko Hikoya, Nobutaka Tachibana, Toshiyuki Fukao, Tetsuya Yamamoto & Yoshihiro Hotta. (2020) A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation. Ophthalmic Genetics 41:2, pages 175-182.
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Nikhila S. Khandwala, Muralidhar Ramappa, Deepak P. Edward & Mehmet C. Mocan. (2023) Axenfeld–Rieger syndrome in the pediatric population: A review. Taiwan Journal of Ophthalmology.
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Logan Muzyka, Emily Winterhalter, Melissa A. LoPresti, Jonathan Scoville, Brenda L. Bohnsack & Sandi K. Lam. (2023) Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening. Heliyon 9:7, pages e18225.
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Hong Le, Eva Jin, Ann Jewell, Colleen Jackson‐Cook, Gloria T. Haskell & Natario Couser. (2023) Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features. American Journal of Medical Genetics Part A 191:6, pages 1639-1645.
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Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts & Aafke Engwerda. (2023) The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review. Orphanet Journal of Rare Diseases 18:1.
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Adam Jacobson & Brenda L. Bohnsack. (2022) Posterior segment findings in Axenfeld-Rieger syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus 26:6, pages 320-322.
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Jesús-José Ferre-Fernández, Elena A Sorokina, Samuel Thompson, Ross F Collery, Emily Nordquist, Joy Lincoln & Elena V Semina. (2020) Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome. Human Molecular Genetics 29:16, pages 2723-2735.
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Riccardo Sangermano, Hilary Scott, Naomi Wagner, Emily Place & Kinga M. Bujakowska. 2020. Genetics and Genomics of Eye Disease. Genetics and Genomics of Eye Disease 239 258 .
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou & Antonis A. Kousoulis. (2017) The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. Journal of Child Neurology 32:10, pages 886-902.
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Adriana Amaro, Rosaria Gangemi, Francesca Piaggio, Giovanna Angelini, Gaia Barisione, Silvano Ferrini & Ulrich Pfeffer. (2017) The biology of uveal melanoma. Cancer and Metastasis Reviews 36:1, pages 109-140.
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Zhongxia Qi, Linda Jo Bone Jeng, Anne Slavotinek & Jingwei Yu. (2015) Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Medical Genomics 8:1.
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