Literature DB >> 8456858

Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys.

H V Toriello1, Y Lacassie, P Droste, J V Higgins.   

Abstract

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Year:  1993        PMID： 8456858     DOI： 10.1002/ajmg.1320450620

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


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  8 in total

Review 1.  A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita.

Authors:  S R Humphrey; X Hu; K Adamson; A Schaus; J N Jensen; B Drolet
Journal:  J Perinatol       Date:  2017-10-19       Impact factor: 2.521

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.  Epibulbar complex and osseous choristoma: Clinicopathological study with interesting associations.

Authors:  Mohammed M Aldossary; Hind M Alkatan; Azza My Maktabi
Journal:  Ann Med Surg (Lond)       Date:  2018-10-31

5.  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

6.  Ocular manifestations of ectodermal dysplasia.

Authors:  Daphna Landau Prat; William R Katowitz; Alanna Strong; James A Katowitz
Journal:  Orphanet J Rare Dis       Date:  2021-05-01       Impact factor: 4.303

7.  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

8.  Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.

Authors:  Yan Yan; Siyi Zhang; Henghua Zhou; Yixiong Zhou; Yao Fu
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418
  8 in total

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