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Academic Journal

Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia.

  • Authors : Li J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.; Wang Q

Subjects: Alleles* ; Genes, Dominant* ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 650-656. Date of Electronic Publication: 2024 Jul 17.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

3D Orbital Reconstruction in a Patient with Microphthalmos and a Large Orbital Cyst—A Case Report: a case report

Subjects: Male; Cysts; Eye, Artificial

  • Source: Mourits, D L, Wolff, J, Forouzanfar, T, Ridwan-Pramana, A, Moll, A C, de Graaf, P, Remmers, J S, Kraal-Biezen, E & Hartong, D T 2016, '3D Orbital Reconstruction in a Patient with

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Academic Journal

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

  • Authors : Boysen KB; Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Subjects: Arthritis*/Arthritis*/Arthritis*/genetics ; Arthritis*/Arthritis*/Arthritis*/diagnosis ; Cataract*/Cataract*/Cataract*/genetics Stickler syndrome, type 2

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2024 Jun; Vol. 45 (3), pp. 313-318. Date of Electronic Publication: 2024 Feb 01.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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