Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
1. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance;Al-Owain;Clin Genet,2011
2. Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis;Ardinger;Am J Med Genet Part A,2007
3. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation;Billuart;Nature,1998
4. Deletion of the OPHN1 gene detected by aCGH;Madrigal;J Intellect Disabil Res,2008
5. Oculo-ectodermal syndrome: Is arachnoid cyst a common finding?;Martin;Clin Dysmorphol,2007
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1. Giant Cell Lesions of the Jaws Involving RASopathy Syndromes;Acta Stomatologica Croatica;2022-03-15
2. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies;Molecular Genetics & Genomic Medicine;2019-03-19
3. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita;Journal of Perinatology;2017-10-19
4. Oculoectodermal syndrome: twentieth described case with new manifestations;Anais Brasileiros de Dermatologia;2016-10
5. Oculoectodermal syndrome is a mosaic RASopathy associated withKRASalterations;American Journal of Medical Genetics Part A;2015-03-21
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