View in EDS

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

Saved in:
Bibliographic Details
Title: Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.
Authors: Mariano D; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Petrone V; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Basso L; Radiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Capra V; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Vari MS; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Marras A; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Tantari G; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., d'Annunzio G; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Source: Children (Basel, Switzerland) [Children (Basel)] 2026 Apr 27; Vol. 13 (5). Date of Electronic Publication: 2026 Apr 27.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42194125
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Mariano+D%22">Mariano D</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Petrone+V%22">Petrone V</searchLink>; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Madia+F%22">Madia F</searchLink>; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Basso+L%22">Basso L</searchLink>; Radiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Capra+V%22">Capra V</searchLink>; Clinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Vari+MS%22">Vari MS</searchLink>; Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Marras+A%22">Marras A</searchLink>; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Tantari+G%22">Tantari G</searchLink>; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22d'Annunzio+G%22">d'Annunzio G</searchLink>; Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101648936%22">Children (Basel, Switzerland)</searchLink> [Children (Basel)] 2026 Apr 27; Vol. 13 (5). <i>Date of Electronic Publication: </i>2026 Apr 27.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101648936 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2227-9067 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222279067%22">22279067 </searchLink><i>NLM ISO Abbreviation: </i>Children (Basel) <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42194125
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/children13050599
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mariano D
      – PersonEntity:
          Name:
            NameFull: Petrone V
      – PersonEntity:
          Name:
            NameFull: Madia F
      – PersonEntity:
          Name:
            NameFull: Severino M
      – PersonEntity:
          Name:
            NameFull: Basso L
      – PersonEntity:
          Name:
            NameFull: Capra V
      – PersonEntity:
          Name:
            NameFull: Vari MS
      – PersonEntity:
          Name:
            NameFull: Marras A
      – PersonEntity:
          Name:
            NameFull: Tantari G
      – PersonEntity:
          Name:
            NameFull: d'Annunzio G
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 27
              M: 04
              Text: 2026 Apr 27
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-print
              Value: 2227-9067
          Numbering:
            – Type: volume
              Value: 13
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Children (Basel, Switzerland)
              Type: main
ResultId 1