Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems
Author:
Affiliation:
1. Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile; ARNAS Garibaldi Nesima; Catania; Italy
2. Laboratorio Genetica Medica; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina; Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35860/fullpdf
Reference27 articles.
1. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature;Behnecke;Am J Med Genet Part A,2011
2. Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism;Bhat;Clin Genet,2008
3. Identification by STS PCR screening of a microdeletion in Xp213-221 associated with non-specific mental retardation;Billuart;Hum Mol Genet,1996
4. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation;Carrie;Nat Genet,1999
5. Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism;Franek;Am J Med Genet Part A,2011
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