Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
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| Title: | Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report. |
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| Authors: | Baz-Redón N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain., Soler-Colomer L; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Fernández-Cancio M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Benito-Sanz S; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autonóma de Madrid, Madrid, Spain., Garrido M; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Moliné T; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Clemente M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Camats-Tarruella N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Yeste D; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Oct 11; Vol. 13, pp. 957969. Date of Electronic Publication: 2022 Oct 11 (Print Publication: 2022). |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36303863 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Baz-Redón+N%22">Baz-Redón N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Soler-Colomer+L%22">Soler-Colomer L</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Cancio+M%22">Fernández-Cancio M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Benito-Sanz+S%22">Benito-Sanz S</searchLink>; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autonóma de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Garrido+M%22">Garrido M</searchLink>; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Moliné+T%22">Moliné T</searchLink>; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Clemente+M%22">Clemente M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Camats-Tarruella+N%22">Camats-Tarruella N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Yeste+D%22">Yeste D</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2022 Oct 11; Vol. 13, pp. 957969. <i>Date of Electronic Publication: </i>2022 Oct 11 (<i>Print Publication: </i>2022). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101555782 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2392 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642392%22">16642392 </searchLink><i>NLM ISO Abbreviation: </i>Front Endocrinol (Lausanne) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36303863 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fendo.2022.957969 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 957969 Titles: – TitleFull: Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Baz-Redón N – PersonEntity: Name: NameFull: Soler-Colomer L – PersonEntity: Name: NameFull: Fernández-Cancio M – PersonEntity: Name: NameFull: Benito-Sanz S – PersonEntity: Name: NameFull: Garrido M – PersonEntity: Name: NameFull: Moliné T – PersonEntity: Name: NameFull: Clemente M – PersonEntity: Name: NameFull: Camats-Tarruella N – PersonEntity: Name: NameFull: Yeste D IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 10 Text: 2022 Oct 11 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 1664-2392 Numbering: – Type: volume Value: 13 Titles: – TitleFull: Frontiers in endocrinology Type: main |
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