Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.
Saved in:
| Title: | Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis. |
|---|---|
| Authors: | Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Minaycheva LI; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Siberian State Medical University, Tomsk, Russia., Vasilyeva OY; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Zarubin AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Ravzhaeva EG; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Petlina EY; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Sukhanova NN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Zuev AS; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Yamin VA; Siberian State Medical University, Tomsk, Russia., Seitova GN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1651-1656. Date of Electronic Publication: 2026 Feb 25. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41738068 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kashevarova+AA%22">Kashevarova AA</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Minaycheva+LI%22">Minaycheva LI</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Fonova+EA%22">Fonova EA</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Siberian State Medical University, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Vasilyeva+OY%22">Vasilyeva OY</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Zarubin+AA%22">Zarubin AA</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Ravzhaeva+EG%22">Ravzhaeva EG</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Petlina+EY%22">Petlina EY</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Sukhanova+NN%22">Sukhanova NN</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Zuev+AS%22">Zuev AS</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Yamin+VA%22">Yamin VA</searchLink>; Siberian State Medical University, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Seitova+GN%22">Seitova GN</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Lebedev+IN%22">Lebedev IN</searchLink>; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1651-1656. <i>Date of Electronic Publication: </i>2026 Feb 25. – 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41738068 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmga.70062 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1651 Titles: – TitleFull: Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kashevarova AA – PersonEntity: Name: NameFull: Minaycheva LI – PersonEntity: Name: NameFull: Fonova EA – PersonEntity: Name: NameFull: Vasilyeva OY – PersonEntity: Name: NameFull: Zarubin AA – PersonEntity: Name: NameFull: Ravzhaeva EG – PersonEntity: Name: NameFull: Petlina EY – PersonEntity: Name: NameFull: Sukhanova NN – PersonEntity: Name: NameFull: Zuev AS – PersonEntity: Name: NameFull: Yamin VA – PersonEntity: Name: NameFull: Seitova GN – PersonEntity: Name: NameFull: Lebedev IN IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2026 Jul Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 200 – Type: issue Value: 7 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
| ResultId | 1 |
