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Ophthalmic Genetics Volume 34, 2013 - Issue 1-2
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Case Reports

Blue cone monochromatism in a female due to skewed X-inactivation

Anja L. FrederiksenDepartment of Clinical Genetics, Aalborg University Hospital/Vejle Hospital, Vejle, DenmarkCorrespondence[email protected]
,
Morten DunoDepartment of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
&
Lotte G. WelinderDepartment of Ophthalmology, Aalborg University Hospital, Aalborg, Denmark
Pages 101-104 | Received 01 Apr 2012, Accepted 26 Aug 2012, Published online: 24 Sep 2012

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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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Torsten Schöneberg & Ines Liebscher. (2020) Mutations in G Protein–Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches. Pharmacological Reviews 73:1, pages 89-119.
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Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas 171 173 .

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