Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye-Reference-Cited by-同舟云学术

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Published:2022-11-21 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Chesneau Bertrand^ORCID,Ivashchenko Véronique,Habib Christophe^ORCID,Gaston Véronique^ORCID,Escudié Fréderic,Morel Godelieve^ORCID,Capri Yline,Vincent-Delorme Catherine,Calvas Patrick^ORCID,Chassaing Nicolas,Plaisancié Julie^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01234-3.pdf

Reference30 articles.

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2. Slavotinek A. Genetics of anophthalmia and microphthalmia. Part 2: syndromes associated with anophthalmia–microphthalmia. Hum Genet. 2019;138:831–46.

3. Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, et al. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. Clin Genet. 2018;93:1210–22.

4. Haug P, Koller S, Maggi J, Lang E, Feil S, Wlodarczyk A, et al. Whole exome sequencing in coloboma/microphthalmia: identification of novel and recurrent variants in seven genes. Genes. 2021;12:65.

5. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13:565–75.

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