A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
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| Title: | A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization. |
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| Authors: | Dvoryanchikov YV; Endocrinology Research Centre, Moscow, Russia., Khusainova RI; Endocrinology Research Centre, Moscow, Russia., Minniakhmetov IR; Endocrinology Research Centre, Moscow, Russia., Salakhov RR; Endocrinology Research Centre, Moscow, Russia., Smirnov KV; Endocrinology Research Centre, Moscow, Russia., Ibragimova SA; Endocrinology Research Centre, Moscow, Russia., Golodnikov II; Endocrinology Research Centre, Moscow, Russia., Sechko EA; Endocrinology Research Centre, Moscow, Russia., Dobreva EA; Endocrinology Research Centre, Moscow, Russia., Mokrysheva NG; Endocrinology Research Centre, Moscow, Russia. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 May 12; Vol. 17, pp. 1819047. Date of Electronic Publication: 2026 May 12 (Print Publication: 2026). |
| 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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42205255 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Dvoryanchikov+YV%22">Dvoryanchikov YV</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Khusainova+RI%22">Khusainova RI</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Minniakhmetov+IR%22">Minniakhmetov IR</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Salakhov+RR%22">Salakhov RR</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Smirnov+KV%22">Smirnov KV</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ibragimova+SA%22">Ibragimova SA</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Golodnikov+II%22">Golodnikov II</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sechko+EA%22">Sechko EA</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dobreva+EA%22">Dobreva EA</searchLink>; Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Mokrysheva+NG%22">Mokrysheva NG</searchLink>; Endocrinology Research Centre, Moscow, Russia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2026 May 12; Vol. 17, pp. 1819047. <i>Date of Electronic Publication: </i>2026 May 12 (<i>Print Publication: </i>2026). – 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=42205255 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fendo.2026.1819047 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1819047 Titles: – TitleFull: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dvoryanchikov YV – PersonEntity: Name: NameFull: Khusainova RI – PersonEntity: Name: NameFull: Minniakhmetov IR – PersonEntity: Name: NameFull: Salakhov RR – PersonEntity: Name: NameFull: Smirnov KV – PersonEntity: Name: NameFull: Ibragimova SA – PersonEntity: Name: NameFull: Golodnikov II – PersonEntity: Name: NameFull: Sechko EA – PersonEntity: Name: NameFull: Dobreva EA – PersonEntity: Name: NameFull: Mokrysheva NG IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 05 Text: 2026 May 12 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 1664-2392 Numbering: – Type: volume Value: 17 Titles: – TitleFull: Frontiers in endocrinology Type: main |
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