De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly | Zendy

Resta Nicoletta | Zendy; De Cosmo Lucrezia | Zendy; Susca Francesco Claudio | Zendy; Capodiferro Donatella | Zendy; Nardone Anna Maria | Zendy; Pastorivo Diana | Zendy; Bertoli Marta | Zendy; Serlenga Carmela | Zendy; Burattini MariaGabriella | Zendy; Schettini Federico | Zendy; Laforgia Nicola | Zendy

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De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

Author(s) -

Resta Nicoletta,

De Cosmo Lucrezia,

Susca Francesco Claudio,

Capodiferro Donatella,

Nardone Anna Maria,

Pastorivo Diana,

Bertoli Marta,

Serlenga Carmela,

Burattini MariaGabriella,

Schettini Federico,

Laforgia Nicola

Publication year - 2013

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.35777

Subject(s) - comparative genomic hybridization , monosomy , craniofacial , chromosomal translocation , trigonocephaly , genetics , biology , microarray , trisomy , craniofacial abnormality , partial trisomy , cortical dysplasia , computational biology , genome , chromosome , craniosynostosis , karyotype , gene , neuroscience , gene expression , epilepsy

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