Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33492/fullpdf
Reference23 articles.
1. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;Br J Ophthalmol,2007
2. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-12.2;Ballif;Nat Genet,2007
3. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals;Bijlsma;Eur J Med Genet,2009
4. Congenital eye malformations: A descriptive epidemiologic study in about one million newborns in Italy;Clementi;Birth Defects Orig Artic Ser,1996
5. Geographical variation in anophthalmia and microphthalmia in England, 1988-94;Dolk;BMJ,1998
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1. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype;Human Genomics;2024-09-04
2. Clinical Implications of Chromosome 16 Copy Number Variation;Molecular Syndromology;2021-12-15
3. Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes;Genes;2021-01-06
4. Visual function and quality of life in children and adolescents with anophthalmia and microphthalmia treated with ocular prosthesis;Acta Ophthalmologica;2020-04-30
5. Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review;Case Reports in Pediatrics;2020-04-20
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