Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.
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| Title: | Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome. |
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| Authors: | Nogueira, Enrique (AUTHOR), Garma, Carmen (AUTHOR), Lobo, Concepción (AUTHOR), del Olmo, Beatriz (AUTHOR), Arroyo, José Manuel (AUTHOR), Gómez, Iván (AUTHOR) |
| Source: | Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4349-4352. 4p. 1 Color Photograph, 2 Graphs. |
| Subjects: | Genetic mutation, Sequence analysis, Craniofacial abnormalities, Adenosine triphosphatase, Multiple human abnormalities, Genes, Language disorders, Growth disorders, Ventricular septal defects |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 152463417 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Nogueira%2C+Enrique%22">Nogueira, Enrique</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Garma%2C+Carmen%22">Garma, Carmen</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lobo%2C+Concepción%22">Lobo, Concepción</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22del+Olmo%2C+Beatriz%22">del Olmo, Beatriz</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Arroyo%2C+José+Manuel%22">Arroyo, José Manuel</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gómez%2C+Iván%22">Gómez, Iván</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Oct2021, Vol. 42 Issue 10, p4349-4352. 4p. 1 Color Photograph, 2 Graphs. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Craniofacial+abnormalities%22">Craniofacial abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Adenosine+triphosphatase%22">Adenosine triphosphatase</searchLink><br /><searchLink fieldCode="DE" term="%22Multiple+human+abnormalities%22">Multiple human abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Language+disorders%22">Language disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Growth+disorders%22">Growth disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Ventricular+septal+defects%22">Ventricular septal defects</searchLink> |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=152463417 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-021-05423-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 4349 Subjects: – SubjectFull: Genetic mutation Type: general – SubjectFull: Sequence analysis Type: general – SubjectFull: Craniofacial abnormalities Type: general – SubjectFull: Adenosine triphosphatase Type: general – SubjectFull: Multiple human abnormalities Type: general – SubjectFull: Genes Type: general – SubjectFull: Language disorders Type: general – SubjectFull: Growth disorders Type: general – SubjectFull: Ventricular septal defects Type: general Titles: – TitleFull: Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Nogueira, Enrique – PersonEntity: Name: NameFull: Garma, Carmen – PersonEntity: Name: NameFull: Lobo, Concepción – PersonEntity: Name: NameFull: del Olmo, Beatriz – PersonEntity: Name: NameFull: Arroyo, José Manuel – PersonEntity: Name: NameFull: Gómez, Iván IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 42 – Type: issue Value: 10 Titles: – TitleFull: Neurological Sciences Type: main |
| ResultId | 1 |
