Associated Papers
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.
Seese SE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with microphthalmia/coloboma and skeletal dysplasia syndrome due to variant of MAB21L2 gene].
Tang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE et al.
Human Mutation, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Generation and characterization of pathogenic Mab21l2(R51C) mouse model.
Tsang SW et al.
Genesis (new York, N.y. : 2000), 2018
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.
Patel N et al.
Clinical Genetics, 2018
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
Deml B et al.
Plos Genetics, 2015
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