Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Author:

Di Benedetto Daniela1,Musumeci Sebastiano Antonino2,Avola Emanuela3,Alberti Antonino3,Buono Serafino4,Scuderi Carmela5,Grillo Lucia1,Galesi Ornella1,Spalletta Angela1,Giudice Mariangela Lo5,Luciano Daniela1,Vinci Mirella1,Bianca Sebastiano6,Romano Corrado3,Fichera Marco17

Affiliation:

1. Laboratory of Medical Genetics; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina Italy

2. Unit of Neurology; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina Italy

3. Unit of Pediatrics and Medical Genetics; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina Italy

4. Unit of Psychology; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina Italy

5. Unit of Neuromuscular Disease; I.R.C.C.S. Associazione Oasi Maria Santissima; Troina Italy

6. Unit of Medical Genetics; ARNAS Garibaldi; Catania Italy

7. Medical Genetics; University of Catania; Catania Italy

Funder

5 per mille funding

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. De novo Dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype;Armstrong;Am J Med Genet,2003

3. Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics;Bagni;J Clin Invest,2012

4. Could a patient with SMC1A duplication be classified as a human cohesinopathy;Baquero-Montoya;Clin Genet.,2013

5. Intellectual disability associated with a homozygous missense mutation in THOC6;Beaulieu;Orphanet J Rare Dis,2013

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