Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study.
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| Title: | Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study. |
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| Authors: | Van de Velde S; Department of Pediatrics, AZ Sint Jan Brugge, Brugge, Belgium. simone.vandevelde@azsintjan.be., Boros E; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium., Brunelle C; Department of Pediatric Endocrinology, Cliniques Universitaires Saint Luc Bruxelles, Brussels, Belgium., Beckers D; Department of Pediatrics, Université Catholique de Louvain CHU UCL Namur, Yvoir, Belgium.; Department of Pediatrics, Pediatric Endocrinology, UZ Leuven, Louvain, Belgium., Thomas M; BELSPEED (Belgian and Luxemburgish Society for Pediatric Endocrinology and Diabetology), Brussels, Belgium., Heinrichs C; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium., Vlaeminck J; Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium., De Schepper J; Division of Pediatric Endocrinology, Research Group Growth and Development, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium., Brachet C; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium. |
| Source: | European journal of pediatrics [Eur J Pediatr] 2026 May 16; Vol. 185 (6). Date of Electronic Publication: 2026 May 16. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42143199 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Van+de+Velde+S%22">Van de Velde S</searchLink>; Department of Pediatrics, AZ Sint Jan Brugge, Brugge, Belgium. simone.vandevelde@azsintjan.be.<br /><searchLink fieldCode="AU" term="%22Boros+E%22">Boros E</searchLink>; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Brunelle+C%22">Brunelle C</searchLink>; Department of Pediatric Endocrinology, Cliniques Universitaires Saint Luc Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Beckers+D%22">Beckers D</searchLink>; Department of Pediatrics, Université Catholique de Louvain CHU UCL Namur, Yvoir, Belgium.; Department of Pediatrics, Pediatric Endocrinology, UZ Leuven, Louvain, Belgium.<br /><searchLink fieldCode="AU" term="%22Thomas+M%22">Thomas M</searchLink>; BELSPEED (Belgian and Luxemburgish Society for Pediatric Endocrinology and Diabetology), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Heinrichs+C%22">Heinrichs C</searchLink>; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Vlaeminck+J%22">Vlaeminck J</searchLink>; Centre for Medical Genetics, Research Group Genetics, Reproduction and Development (GRAD), Clinical Sciences, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Schepper+J%22">De Schepper J</searchLink>; Division of Pediatric Endocrinology, Research Group Growth and Development, Universitair Ziekenhuis Brussel (UZ Brussel) - Vrije Universiteit Brussel (VUB), Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Brachet+C%22">Brachet C</searchLink>; Pediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire Des Enfants Reine Fabiola (HUDERF), Brussels, Belgium. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227603873%22">European journal of pediatrics</searchLink> [Eur J Pediatr] 2026 May 16; Vol. 185 (6). <i>Date of Electronic Publication: </i>2026 May 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7603873 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1076 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406199%22">03406199 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42143199 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-026-07039-6 Languages: – Code: eng Text: English Titles: – TitleFull: Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Van de Velde S – PersonEntity: Name: NameFull: Boros E – PersonEntity: Name: NameFull: Brunelle C – PersonEntity: Name: NameFull: Beckers D – PersonEntity: Name: NameFull: Thomas M – PersonEntity: Name: NameFull: Heinrichs C – PersonEntity: Name: NameFull: Vlaeminck J – PersonEntity: Name: NameFull: De Schepper J – PersonEntity: Name: NameFull: Brachet C IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 05 Text: 2026 May 16 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1432-1076 Numbering: – Type: volume Value: 185 – Type: issue Value: 6 Titles: – TitleFull: European journal of pediatrics Type: main |
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