SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
About this item
Full title
Author / Creator
Genomics England Research Consortium , Calpena, Eduardo , Cuellar, Araceli , Bala, Krithi , Swagemakers, Sigrid M. A. , Koelling, Nils , McGowan, Simon J. , Phipps, Julie M. , Balasubramanian, Meena , Cunningham, Michael L. , Douzgou, Sofia , Lattanzi, Wanda , Morton, Jenny E. V. , Shears, Deborah , Weber, Astrid , Wilson, Louise C. , Lord, Helen , Lester, Tracy , Johnson, David , Wall, Steven A. , Twigg, Stephen R. F. , Mathijssen, Irene M. J. , Boardman-Pretty, Freya , Boyadjiev, Simeon A. and Wilkie, Andrew O. M.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Enrichment of heterozygous missense and truncating
SMAD6
variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of
SMAD6
variants with a common polymorphism near
BMP2
(rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of
SMAD6
...
Alternative Titles
Full title
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Authors, Artists and Contributors
Author / Creator
Calpena, Eduardo
Cuellar, Araceli
Bala, Krithi
Swagemakers, Sigrid M. A.
Koelling, Nils
McGowan, Simon J.
Phipps, Julie M.
Balasubramanian, Meena
Cunningham, Michael L.
Douzgou, Sofia
Lattanzi, Wanda
Morton, Jenny E. V.
Shears, Deborah
Weber, Astrid
Wilson, Louise C.
Lord, Helen
Lester, Tracy
Johnson, David
Wall, Steven A.
Twigg, Stephen R. F.
Mathijssen, Irene M. J.
Boardman-Pretty, Freya
Boyadjiev, Simeon A.
Wilkie, Andrew O. M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7462747
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7462747
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0817-2
