A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
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| Title: | A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement. |
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| Authors: | Decio, Alice (AUTHOR), Marelli, Susan (AUTHOR), Mambretti, Fabiana (AUTHOR), Bassi, Maria Teresa (AUTHOR), D'Angelo, Maria Grazia (AUTHOR) |
| Source: | Neurological Sciences. Aug2024, Vol. 45 Issue 8, p4077-4081. 5p. |
| Subjects: | Arthrogryposis, Type 2 diabetes, Syndromes |
| Abstract: | This article discusses a case of Wieacker-Wolff syndrome (WRWS), an ultra-rare X-linked disorder characterized by congenital multiplex arthrogryposis (CMA), in a female patient. WRWS is caused by pathogenic variants in the ZC4H2 gene, which is involved in nervous system development. The syndrome is associated with a wide range of symptoms, including neurological, endocrinological, and cardiac involvement. This case report highlights the multisystemic nature of the syndrome and suggests that heart assessment should be included in the follow-up of female patients. [Extracted from the article] |
| Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 178484335 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Decio%2C+Alice%22">Decio, Alice</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Marelli%2C+Susan%22">Marelli, Susan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mambretti%2C+Fabiana%22">Mambretti, Fabiana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bassi%2C+Maria+Teresa%22">Bassi, Maria Teresa</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22D'Angelo%2C+Maria+Grazia%22">D'Angelo, Maria Grazia</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2024, Vol. 45 Issue 8, p4077-4081. 5p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Arthrogryposis%22">Arthrogryposis</searchLink><br /><searchLink fieldCode="DE" term="%22Type+2+diabetes%22">Type 2 diabetes</searchLink><br /><searchLink fieldCode="DE" term="%22Syndromes%22">Syndromes</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: This article discusses a case of Wieacker-Wolff syndrome (WRWS), an ultra-rare X-linked disorder characterized by congenital multiplex arthrogryposis (CMA), in a female patient. WRWS is caused by pathogenic variants in the ZC4H2 gene, which is involved in nervous system development. The syndrome is associated with a wide range of symptoms, including neurological, endocrinological, and cardiac involvement. This case report highlights the multisystemic nature of the syndrome and suggests that heart assessment should be included in the follow-up of female patients. [Extracted from the article] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=178484335 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-024-07457-0 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 4077 Subjects: – SubjectFull: Arthrogryposis Type: general – SubjectFull: Type 2 diabetes Type: general – SubjectFull: Syndromes Type: general Titles: – TitleFull: A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Decio, Alice – PersonEntity: Name: NameFull: Marelli, Susan – PersonEntity: Name: NameFull: Mambretti, Fabiana – PersonEntity: Name: NameFull: Bassi, Maria Teresa – PersonEntity: Name: NameFull: D'Angelo, Maria Grazia IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: Aug2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 45 – Type: issue Value: 8 Titles: – TitleFull: Neurological Sciences Type: main |
| ResultId | 1 |
