Literature DB >> 10767005

Oculo-ectodermal syndrome: report of two further cases.

M Lees1, D Taylor, D Atherton, W Reardon.   

Abstract

We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as a distinct entity. Copyright 2000 Wiley-Liss, Inc.

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Mesh：

Year:  2000        PMID： 10767005     DOI： 10.1002/(sici)1096-8628(20000424)91:5<391::aid-ajmg14>3.0.co;2-f

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

Review 1.  [Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)].

Authors:  M Ludwig; B Utsch; H Reutter
Journal:  Urologe A       Date:  2005-09       Impact factor: 0.639

2.  Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

Authors:  Fajish Habib; Mahmoud F Elsaid; Khalid Yacout Salem; Khalid Omer Ibrahim; Khalid Mohamed
Journal:  Qatar Med J       Date:  2014-12-09

3.  Oculoectodermal syndrome: twentieth described case with new manifestations.

Authors:  Daniela de Almeida Figueiras; Deborah Maria de Castro Barbosa Leal; Valter Kozmhinsky; Marina Coutinho Domingues Querino; Marina Genesia da Silva Regueira; Maria Gabriela de Morais Studart
Journal:  An Bras Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.896

4.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

Review 5.  Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.

Authors:  Melissa Luna; Nicholas Wolsefer; Carlos-Xavier Zambrano; Ivan James Stojanov
Journal:  Acta Stomatol Croat       Date:  2022-03

6.  Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Authors:  Aude Beyens; Laure Dequeker; Hilde Brems; Sandra Janssens; Hannes Syryn; Anne D'Hooghe; Pascale De Paepe; Lieve Vanwalleghem; Annelies Stockman; Elena Vankwikelberge; Sofie De Schepper; Marleen Goeteyn; Patricia Delbeke; Bert Callewaert
Journal:  Int J Mol Sci       Date:  2022-04-06       Impact factor: 5.923
  6 in total

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