Publicação: Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome
dc.contributor.author | Vieira, Gustavo H. | |
dc.contributor.author | Rodriguez, Jayson D. | |
dc.contributor.author | Boy, Raquel | |
dc.contributor.author | Paiva, Isaias Soares de | |
dc.contributor.author | Dupont, Barbara R. | |
dc.contributor.author | Moretti-Ferreira, Danilo | |
dc.contributor.author | Srivastava, Anand K. | |
dc.contributor.institution | Greenwood Genetic Center | |
dc.contributor.institution | Universidade Estadual Paulista (Unesp) | |
dc.contributor.institution | Universidade do Estado do Rio de Janeiro (UERJ) | |
dc.contributor.institution | Clemson University | |
dc.date.accessioned | 2014-05-27T11:25:51Z | |
dc.date.available | 2014-05-27T11:25:51Z | |
dc.date.issued | 2011-05-01 | |
dc.description.affiliation | J.C. Self Research Institute of Human Genetics Greenwood Genetic Center, Greenwood, SC | |
dc.description.affiliation | Department of Genetics University of São Paulo State, Botucatu, SP | |
dc.description.affiliation | Faculty of Medical Sciences Department of Pediatrics State University of Rio de Janeiro, Rio de Janeiro | |
dc.description.affiliation | Department of Genetics and Biochemistry Clemson University, Clemson, SC | |
dc.format.extent | 988-992 | |
dc.identifier | http://dx.doi.org/10.1002/ajmg.a.33960 | |
dc.identifier.citation | American Journal of Medical Genetics, Part A, v. 155, n. 5, p. 988-992, 2011. | |
dc.identifier.doi | 10.1002/ajmg.a.33960 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.issn | 1552-4833 | |
dc.identifier.orcid | 0000-0002-9256-7623 | |
dc.identifier.scopus | 2-s2.0-79954998470 | |
dc.identifier.uri | http://hdl.handle.net/11449/72395 | |
dc.language.iso | eng | |
dc.relation.ispartof | American Journal of Medical Genetics Part A | |
dc.relation.ispartofjcr | 2.264 | |
dc.relation.ispartofsjr | 1,098 | |
dc.relation.ispartofsjr | 1,098 | |
dc.rights.accessRights | Acesso aberto | |
dc.source | Scopus | |
dc.subject | 1p36 deletion syndrome | |
dc.subject | adolescent | |
dc.subject | behavior disorder | |
dc.subject | case report | |
dc.subject | chromosome deletion | |
dc.subject | clinical feature | |
dc.subject | comparative genomic hybridization | |
dc.subject | craniofacial malformation | |
dc.subject | differential diagnosis | |
dc.subject | female | |
dc.subject | genotype | |
dc.subject | human | |
dc.subject | intellectual impairment | |
dc.subject | letter | |
dc.subject | muscle hypotonia | |
dc.subject | priority journal | |
dc.subject | seizure | |
dc.subject | single nucleotide polymorphism | |
dc.subject | sleep disorder | |
dc.subject | Smith Magenis syndrome | |
dc.subject | speech disorder | |
dc.subject | Adolescent | |
dc.subject | Chromosome Deletion | |
dc.subject | Chromosomes, Human, Pair 1 | |
dc.subject | Diagnosis, Differential | |
dc.subject | Female | |
dc.subject | Humans | |
dc.subject | Smith-Magenis Syndrome | |
dc.subject | Syndrome | |
dc.title | Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome | en |
dc.type | Carta | |
dcterms.license | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
dspace.entity.type | Publication | |
unesp.campus | Universidade Estadual Paulista (UNESP), Instituto de Biociências, Botucatu | pt |
unesp.department | Genética - IBB | pt |