Microphthalmia
What's New
Last Posted: Mar 31, 2023
- Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.
Bela Parekh et al. Genes 2023 14(3) - Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Animesh Sahu et al. Indian journal of ophthalmology 2023 71(3) 935-940 - Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf Louise et al. American journal of medical genetics. Part A 2021 - Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson Daniel et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug - Genetic testing for inherited ocular conditions in a developing country.
Zanolli Mario et al. Ophthalmic genetics 2020 Mar 1-5 - Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct - Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans Carey-Anne et al. American journal of medical genetics. Part A 2019 Jul - Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al. Human genetics 2019 Feb - The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.
Patel Aara et al. Ophthalmology 2019 Jan - Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte María et al. Frontiers in genetics 2018 9479
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 27, 2024
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