SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant-Reference-Cited by-同舟云学术

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

Published:2018-06 Issue:6 Volume:61 Page:335-340
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Errichiello Edoardo^ORCID,Gorgone Cristina,Giuliano Loretta^ORCID,Iadarola Barbara,Cosentino Emanuela,Rossato Marzia,Kurtas Nehir Edibe,Delledonne Massimo,Mattina Teresa^ORCID,Zuffardi Orsetta

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

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2. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;Br. J. Ophthalmol.,2007

3. SOX2 anophthalmia syndrome and dental anomalies;Chacon-Camacho;Am. J. Med. Genet. A,2015

4. Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement;Chassaing;Am. J. Med. Genet. A,2007

5. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations;Dennert;Am. J. Med. Genet. A,2017

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4. Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion;Brain and Development;2022-01

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