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Matthieu P Robert, Jean-Luc Alessandri, Sophie Rondeau, Christine Francannet, Massimiliano Rossi, Caroline Michot, Valerie Cormier-Daire, Gianmaria Miolo, Klaus Dieterich, Pauline Marzin, Carine le Goff, Clémentine Mahaut, Sandra Mercier, Oana Moldovan, Julien Van-Gils, Jean-Philippe Jaïs, Céline Huber

Journal of medical genetics 2024;61(2):109-116

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Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding

Ophthalmic genetics 2020;40(1):54-59

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The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Shifteh Sattar, Joseph G Gleeson

Developmental medicine and child neurology 2011;53(9):793-798

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Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.

Shriprasad Deshpande, Adina Alazraki, Nasim Khoshnam, Diana Kantarovich, Pooya Hoseinzadeh, Camden Hebson, Ajay Bhatia, Lauren Schaffer, Elana Maccou, Bahig M Shehata

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2018;31():34-40

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Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Lin Zhou, Xiaoli Wang, Jingqi An, Yao Zhang, Mengxia He, Li Tang

Experimental eye research 2023;226():109307

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Walker-Warburg syndrome.

Jiri Vajsar, Harry Schachter

Orphanet journal of rare diseases 2009;1():29

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Cohen syndrome: essential features, natural history, and heterogeneity.

S Kivitie-Kallio, R Norio

American journal of medical genetics 2001;102(2):125-35

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Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study.

Karen W Jeng-Miller, Taha Soomro, Nathan L Scott, Prethy Rao, Elizabeth Marlow, Emmanuel Y Chang, Anna Ells, Felix Chau, Eric Nudleman, Charles M Calvo, Nish Patel, Roy Schwartz, Linda A Cernichiaro-Espinosa, Alexandrea Gabrielle Montoya, Jessica Goldstein, C Armitage Harper, Caroline R Baumal, Mary Elizabeth Hartnett, J William Harbour, Cagri G Besirli, Mrinali P Gupta, R V Paul Chan, Kimberly A Drenser, Antonio Capone, Timothy G Murray, Shizuo Mukai, Michael T Trese, Audina M Berrocal, Sui Chien Wong, Yoshihiro Yonekawa

Ophthalmic surgery, lasers & imaging retina 2019;50(4):221-227

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Results for ""Eye Abnormalities""[mesh_terms]

Prevalence of ophthalmological abnormalities in children and adolescents with CHD: systematic review and meta-analysis of observational studies.

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus.

Ocular abnormalities in congenital Zika syndrome: a case report, and review of the literature.

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Two novel GJA1 variants in oculodentodigital dysplasia.

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Walker-Warburg syndrome.

Cohen syndrome: essential features, natural history, and heterogeneity.

Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study.

Results for
""Eye Abnormalities""[mesh_terms]