A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report.
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| Title: | A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. |
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| Authors: | Yeste D; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Aguilar-Riera C; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain., Canestrino G; Paediatric Endocrinology Service, Paediatric Service, Sant Joan de Déu Manresa Hospital, Manresa, Spain., Fernández-Alvarez P; Laboratory of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain., Clemente M; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Camats-Tarruella N; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Growth and Development Research Group, Vall d'Hebron Research Institute, Vall d'Hebron University Hospital, Barcelona, Spain. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Jun 28; Vol. 13, pp. 884107. Date of Electronic Publication: 2022 Jun 28 (Print Publication: 2022). |
| Publication Type: | Case Reports; 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35837313 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Yeste+D%22">Yeste D</searchLink>; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Aguilar-Riera+C%22">Aguilar-Riera C</searchLink>; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Canestrino+G%22">Canestrino G</searchLink>; Paediatric Endocrinology Service, Paediatric Service, Sant Joan de Déu Manresa Hospital, Manresa, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Alvarez+P%22">Fernández-Alvarez P</searchLink>; Laboratory of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Clemente+M%22">Clemente M</searchLink>; Section of Paediatric Endocrinology, Vall d'Hebron University Hospital, Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Camats-Tarruella+N%22">Camats-Tarruella N</searchLink>; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Growth and Development Research Group, Vall d'Hebron Research Institute, Vall d'Hebron University Hospital, Barcelona, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2022 Jun 28; Vol. 13, pp. 884107. <i>Date of Electronic Publication: </i>2022 Jun 28 (<i>Print Publication: </i>2022). – 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="%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=35837313 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fendo.2022.884107 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 884107 Titles: – TitleFull: A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Yeste D – PersonEntity: Name: NameFull: Aguilar-Riera C – PersonEntity: Name: NameFull: Canestrino G – PersonEntity: Name: NameFull: Fernández-Alvarez P – PersonEntity: Name: NameFull: Clemente M – PersonEntity: Name: NameFull: Camats-Tarruella N IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 06 Text: 2022 Jun 28 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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