A New Patient With SPOUT1‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review.
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| Title: | A New Patient With SPOUT1‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review. |
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| Authors: | Valle, Tomás1,2,3, Damián, Alejandra1, Torres, Marta4, Méndez, Pilar4, Márquez, Ana4, Cazalla, Mario1,2,3, Jiménez‐Estrada, Juan A.1,2,3, Rodríguez‐Canó, Manuel1,2,3, Gallego‐Zazo, Natalia1,2,3, Vásquez‐Amell, Valeria1,2,3, Miranda Alcaraz, Lucía1,2,3, Mora‐Gómez, Mónica1,2,3, Ruiz Pérez, Víctor L.1,2,5, Nevado, Julián1,2,3,6, Tenorio‐Castaño, Jair1,2,3,6, Morte, Beatriz1, Carracedo, Ángel1,7,8,9, Lapunzina, Pablo1,2,3,6, plapunzina@ciberer.es, Galán, Enrique1,4,10 |
| Source: | American Journal of Medical Genetics. Part A; Aug2026, Vol. 200 Issue 8, p1929-1933, 5p |
| Database: | Applied Science & Technology Source |
| FullText | Text: Availability: 0 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 195037944 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=195037944 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.70126 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1929 Titles: – TitleFull: A New Patient With SPOUT1‐Related Neurodevelopmental Disorder Identified by Genomic Data Re‐Analysis: Novel Phenotypic Features and Literature Review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Valle, Tomás – PersonEntity: Name: NameFull: Damián, Alejandra – PersonEntity: Name: NameFull: Torres, Marta – PersonEntity: Name: NameFull: Méndez, Pilar – PersonEntity: Name: NameFull: Márquez, Ana – PersonEntity: Name: NameFull: Cazalla, Mario – PersonEntity: Name: NameFull: Jiménez‐Estrada, Juan A. – PersonEntity: Name: NameFull: Rodríguez‐Canó, Manuel – PersonEntity: Name: NameFull: Gallego‐Zazo, Natalia – PersonEntity: Name: NameFull: Vásquez‐Amell, Valeria – PersonEntity: Name: NameFull: Miranda Alcaraz, Lucía – PersonEntity: Name: NameFull: Mora‐Gómez, Mónica – PersonEntity: Name: NameFull: Ruiz Pérez, Víctor L. – PersonEntity: Name: NameFull: Nevado, Julián – PersonEntity: Name: NameFull: Tenorio‐Castaño, Jair – PersonEntity: Name: NameFull: Morte, Beatriz – PersonEntity: Name: NameFull: Carracedo, Ángel – PersonEntity: Name: NameFull: Lapunzina, Pablo – PersonEntity: Name: NameFull: Galán, Enrique IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: Aug2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 15524825 Numbering: – Type: volume Value: 200 – Type: issue Value: 8 Titles: – TitleFull: American Journal of Medical Genetics. Part A Type: main |
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