Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis-Reference-Cited by-同舟云学术

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Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

Published:2021-11-18 Issue: Volume: Page:1-6
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Rafati Maryam¹²³,Mohamadhashem Faezeh²,Jalilian Koosha⁴,Hoseininasab Fatemeh²,Fakhri Laya²,Hoseini Azadeh¹,Amiri Hosna¹,Barati Zeinab¹,Darzi Ramandi Somayeh¹,Mostofinezhad Nioosha¹,Mahmoudi Amir Hosein⁵,Ghaffari Saeed Reza¹²³

Affiliation:

1. Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran

2. Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran

3. Department of Genomics Gene Clinic, Tehran, Iran

4. Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran

5. Department of Ophthalmology Iran RP Center, Tehran, Iran

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.2002915

Reference28 articles.

1. Anophthalmia and microphthalmia

2. The genetic architecture of microphthalmia, anophthalmia and coloboma

3. OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters

4. Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype

5. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

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1. The Application of Targeted Sequencing Technology in Clinical Practice;Advances in Clinical Medicine;2024

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