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Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

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Title: Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
Authors: Constant A; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris. Electronic address: antoine.constant@aphp.fr., Daruich A; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris., Bernabei F; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris., Robert MP; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; Centre Borelli, Paris Cité University, ENS-Saclay, CNRS, INSERM, SSA (M.P.R.), Paris., Burin-Des-Roziers C; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris; Genomic Medicine Department of Systemic and Organ Diseases, Cochin Hospital, APHP, Paris City University (C.B.D.R., S.V.), Paris, France., Valleix S; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris; Genomic Medicine Department of Systemic and Organ Diseases, Cochin Hospital, APHP, Paris City University (C.B.D.R., S.V.), Paris, France., Bremond-Gignac D; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris., Brézin AP; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris., Rothschild PR; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris.
Source: American journal of ophthalmology [Am J Ophthalmol] 2026 Jan; Vol. 281, pp. 17-24. Date of Electronic Publication: 2025 Sep 08.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
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  Data: Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.
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  Data: <searchLink fieldCode="AU" term="%22Constant+A%22">Constant A</searchLink>; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris. Electronic address: antoine.constant@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Daruich+A%22">Daruich A</searchLink>; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris.<br /><searchLink fieldCode="AU" term="%22Bernabei+F%22">Bernabei F</searchLink>; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris.<br /><searchLink fieldCode="AU" term="%22Robert+MP%22">Robert MP</searchLink>; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; Centre Borelli, Paris Cité University, ENS-Saclay, CNRS, INSERM, SSA (M.P.R.), Paris.<br /><searchLink fieldCode="AU" term="%22Burin-Des-Roziers+C%22">Burin-Des-Roziers C</searchLink>; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris; Genomic Medicine Department of Systemic and Organ Diseases, Cochin Hospital, APHP, Paris City University (C.B.D.R., S.V.), Paris, France.<br /><searchLink fieldCode="AU" term="%22Valleix+S%22">Valleix S</searchLink>; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris; Genomic Medicine Department of Systemic and Organ Diseases, Cochin Hospital, APHP, Paris City University (C.B.D.R., S.V.), Paris, France.<br /><searchLink fieldCode="AU" term="%22Bremond-Gignac+D%22">Bremond-Gignac D</searchLink>; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University (A.D., M.P.B., D.B.G.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris.<br /><searchLink fieldCode="AU" term="%22Brézin+AP%22">Brézin AP</searchLink>; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers (A.D., C.B.D.R., S.V., D.B.G., A.P.B.), Paris.<br /><searchLink fieldCode="AU" term="%22Rothschild+PR%22">Rothschild PR</searchLink>; From the Service d'ophtalmologie (Ophtalmopôle) Hôpital Cochin, AP-HP (A.C., F.B., A.P.B., P.R.R.), Paris; Assistance Publique-Hôpitaux de Paris, Université de Paris, Sorbonne Paris Cité (A.C., F.B., A.P.B., P.R.R.), Paris.
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  Data: <searchLink fieldCode="JN" term="%220370500%22">American journal of ophthalmology</searchLink> [Am J Ophthalmol] 2026 Jan; Vol. 281, pp. 17-24. <i>Date of Electronic Publication: </i>2025 Sep 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370500 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-1891 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029394%22">00029394 </searchLink><i>NLM ISO Abbreviation: </i>Am J Ophthalmol <i>Subsets: </i>MEDLINE
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