Literature DB >> 22002936

Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12.

Matthew R Fickie1, Joan M Stoler.   

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Year:  2011        PMID: 22002936     DOI: 10.1002/ajmg.a.34294

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  5 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.  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
  5 in total

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