Literature DB >> 22495968

Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology.

Claire Tourette, Elodie Tron, Stephanie Mallet, Annie Levy-Mozziconacci, Jean-Paul Bonnefont, Claude D'Ercole, Alain Hovnanian, Florence Bretelle.   

Abstract

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Year:  2012        PMID： 22495968     DOI： 10.1002/pd.3839

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  3 in total

1.  Prenatal ultrasound diagnostic approach to Omenn syndrome: case report

Authors:  Santiago Aristizábal-Ortiz; Alba Esquivel-Villabona; Yenny Constanza Bernal-Cifuentes
Journal:  Rev Colomb Obstet Ginecol       Date:  2021-09-30

2.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

Review 3.  Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.

Authors:  Yi Zhou; Liang Li; Ling Wang; Chaoxue Zhang
Journal:  BMC Med Imaging       Date:  2021-03-21       Impact factor: 1.930
  3 in total

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