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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3099805977

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

About this item

Full title

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2024-10, Vol.61 (10), p.982-982

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Correspondence to Professor Tero T Kivelä, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; tero.kivela@helsinki.fi Recently, Hany et al1 found that several heterozygous COL17A1 variants caused dominantly inherited, non-syndromic amelogenesis imperfecta. The authors drew attention to the fact...

Alternative Titles

Full title

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_3099805977

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3099805977

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg-2024-110310

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