A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Saved in:
| Title: | A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report. |
|---|---|
| Alternate Title: | Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso. |
| Authors: | Carvalho, Adriana Amaral1 adrianaamaral.carvalho@gmail.com, Machado, Renato Assis2, Fernandes Maia, Célia Márcia1, Nogueira dos Santos, Luis Antônio1, Barbosa Martelli, Daniella Reis1, Coletta, Ricardo Della2, Júnior, Hercílio Martelli1 |
| Source: | Revista Paulista de Pediatria. 2024, Vol. 42, p1-7. 7p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
|---|---|
| Header | DbId: asn DbLabel: Academic Search Ultimate An: 178011859 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Carvalho%2C+Adriana+Amaral%22">Carvalho, Adriana Amaral</searchLink><relatesTo>1</relatesTo><i> adrianaamaral.carvalho@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Machado%2C+Renato+Assis%22">Machado, Renato Assis</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Fernandes+Maia%2C+Célia+Márcia%22">Fernandes Maia, Célia Márcia</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Nogueira+dos+Santos%2C+Luis+Antônio%22">Nogueira dos Santos, Luis Antônio</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Barbosa+Martelli%2C+Daniella+Reis%22">Barbosa Martelli, Daniella Reis</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Coletta%2C+Ricardo+Della%22">Coletta, Ricardo Della</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Júnior%2C+Hercílio+Martelli%22">Júnior, Hercílio Martelli</searchLink><relatesTo>1</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Revista+Paulista+de+Pediatria%22">Revista Paulista de Pediatria</searchLink>. 2024, Vol. 42, p1-7. 7p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178011859 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1590/1984-0462/2024/42/2022189 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1 Titles: – TitleFull: A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Carvalho, Adriana Amaral – PersonEntity: Name: NameFull: Machado, Renato Assis – PersonEntity: Name: NameFull: Fernandes Maia, Célia Márcia – PersonEntity: Name: NameFull: Nogueira dos Santos, Luis Antônio – PersonEntity: Name: NameFull: Barbosa Martelli, Daniella Reis – PersonEntity: Name: NameFull: Coletta, Ricardo Della – PersonEntity: Name: NameFull: Júnior, Hercílio Martelli IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 01030582 Numbering: – Type: volume Value: 42 Titles: – TitleFull: Revista Paulista de Pediatria Type: main |
| ResultId | 1 |
