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A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.

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Title: A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Authors: Scheffer-Rath MEA; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands., Veenstra-Knol HE; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands., Boot AM; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
Source: Bone reports [Bone Rep] 2023 Jul 15; Vol. 19, pp. 101699. Date of Electronic Publication: 2023 Jul 15 (Print Publication: 2023).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101646176 Publication Model: eCollection Cited Medium: Print ISSN: 2352-1872 (Print) Linking ISSN: 23521872 NLM ISO Abbreviation: Bone Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
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  Data: <searchLink fieldCode="AU" term="%22Scheffer-Rath+MEA%22">Scheffer-Rath MEA</searchLink>; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Veenstra-Knol+HE%22">Veenstra-Knol HE</searchLink>; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Boot+AM%22">Boot AM</searchLink>; Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101646176%22">Bone reports</searchLink> [Bone Rep] 2023 Jul 15; Vol. 19, pp. 101699. <i>Date of Electronic Publication: </i>2023 Jul 15 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101646176 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2352-1872 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223521872%22">23521872 </searchLink><i>NLM ISO Abbreviation: </i>Bone Rep <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37501674
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        Value: 10.1016/j.bonr.2023.101699
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      – Code: eng
        Text: English
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        StartPage: 101699
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      – TitleFull: A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
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            NameFull: Veenstra-Knol HE
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            – D: 15
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              Text: 2023 Jul 15
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              Y: 2023
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