Literature DB >> 11135494

SHORT syndrome: a case with high hyperopia and astigmatism.

S Bonnel1, P Dureau, M LeMerrer, J L Dufier.   

Abstract

We describe a case of the SHORT syndrome and compare it with previously published cases. This six-year-old girl shows nearly all the typical manifestations reported in patients with the SHORT syndrome, including lipoatrophy, minor facial anomalies, Rieger anomaly, and short stature. However, she also suffers from high hyperopia and astigmatism associated with poor visual acuity.

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Year:  2000        PMID: 11135494

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  1 in total

1.  PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Authors:  Christel Thauvin-Robinet; Martine Auclair; Laurence Duplomb; Martine Caron-Debarle; Magali Avila; Judith St-Onge; Martine Le Merrer; Bernard Le Luyer; Delphine Héron; Michèle Mathieu-Dramard; Pierre Bitoun; Jean-Michel Petit; Sylvie Odent; Jeanne Amiel; Damien Picot; Virginie Carmignac; Julien Thevenon; Patrick Callier; Martine Laville; Yves Reznik; Cédric Fagour; Marie-Laure Nunes; Jacqueline Capeau; Olivier Lascols; Frédéric Huet; Laurence Faivre; Corinne Vigouroux; Jean-Baptiste Rivière
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

  1 in total

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