Literature DB >> 23401163

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.

Ana Beleza-Meireles1, Eunice Matoso, Lina Ramos, Joana B Melo, Isabel M Carreira, Eduardo D Silva, Jorge M Saraiva.   

Abstract

A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome.
Copyright © 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID： 23401163     DOI： 10.1002/ajmg.a.35713

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


  2 in total

1.  Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Authors:  Carolyn C Jackson; Alain Lefèvre-Utile; Anne Guimier; Valérie Malan; Julie Bruneau; Antoine Gessain; Olivier Cassar; Jeanne Amiel; Aurélie Cobat; Vimel Rattina; Laurent Abel; Jean-Laurent Casanova; Stéphane Blanche
Journal:  Am J Med Genet A       Date:  2017-05-09       Impact factor: 2.802

2.  Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene.

Authors:  Natália D Linhares; Marta Svartman; Mauro Ivan Salgado; Tatiane C Rodrigues; Silvia S da Costa; Carla Rosenberg; Eugênia R Valadares
Journal:  Meta Gene       Date:  2013-12-04
  2 in total

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