SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia-Reference-Cited by-同舟云学术

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

Published:2015-02 Issue:2 Volume:58 Page:66-70
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mauri Lucia,Franzoni Alessandra,Scarcello Manuela,Sala Stefano,Garavelli Livia,Modugno Alessandra,Grammatico Paola,Patrosso Maria Cristina,Piozzi Elena,Del Longo Alessandra,Gesu Giovanni P.,Manfredini Emanuela,Primignani Paola,Damante Giuseppe,Penco Silvana

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference36 articles.

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4. The genetics of anophthalmia and microphthalmia;Bardakjian;Curr Opin Ophthalmol,2011

5. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes–Brocks syndromes;Bardakjian;BMC Med Genet,2009

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2. Demographics and histopathological characteristics of enucleated microphthalmic globes;Scientific Reports;2022-03-28

3. Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia;American Journal of Medical Genetics Part A;2022-02-05

4. Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis;Ophthalmic Genetics;2021-11-18

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