Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene-Reference-Cited by-同舟云学术

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Published:2013-10 Issue:10 Volume:56 Page:551-555
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bayindir Baran,Piazza Elena,Della Mina Erika,Limongelli Ivan,Brustia Francesca,Ciccone Roberto,Veggiotti Pierangelo,Zuffardi Orsetta,Dehghani Mohammed Reza

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference21 articles.

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3. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation;Giglio;Am. J. Hum. Genet.,2002

4. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf–Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients;Endele;Genomics,1999

5. Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH);Maas;J. Med. Genet.,2008

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3. DELETION 4p;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

4. Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins;Molecular Syndromology;2019

5. Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome;BioMed Research International;2018