Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
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| Title: | Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India. |
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| Authors: | Chaudhary, Ajay Kumar1, Gholse, Aishwarya2, Nagarajaram, Hampapathalu Adimurthy2, Dalal, Ashwin Bhikaji3, Gupta, Neerja4, Dutta, Atanu Kumar5, Danda, Sumita5, Gupta, Rekha6, Sankar, Hariharan V.7, Bhavani, Gandham SriLakshmi8, Girisha, Katta M.8, Phadke, Shubha Rao9, Ranganath, Prajnya3,10, Bashyam, Murali Dharan1, bashyam@cdfd.org.in |
| Source: | American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p788-805, 18p |
| Database: | Applied Science & Technology Source |
| FullText | Text: Availability: 0 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 155218005 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=155218005 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.62579 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 18 StartPage: 788 Titles: – TitleFull: Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chaudhary, Ajay Kumar – PersonEntity: Name: NameFull: Gholse, Aishwarya – PersonEntity: Name: NameFull: Nagarajaram, Hampapathalu Adimurthy – PersonEntity: Name: NameFull: Dalal, Ashwin Bhikaji – PersonEntity: Name: NameFull: Gupta, Neerja – PersonEntity: Name: NameFull: Dutta, Atanu Kumar – PersonEntity: Name: NameFull: Danda, Sumita – PersonEntity: Name: NameFull: Gupta, Rekha – PersonEntity: Name: NameFull: Sankar, Hariharan V. – PersonEntity: Name: NameFull: Bhavani, Gandham SriLakshmi – PersonEntity: Name: NameFull: Girisha, Katta M. – PersonEntity: Name: NameFull: Phadke, Shubha Rao – PersonEntity: Name: NameFull: Ranganath, Prajnya – PersonEntity: Name: NameFull: Bashyam, Murali Dharan IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 15524825 Numbering: – Type: volume Value: 188 – Type: issue Value: 3 Titles: – TitleFull: American Journal of Medical Genetics. Part A Type: main |
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