SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
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Full title
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 , 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 , Boardman-Pretty, F , Boyadjiev, Simeon A and Wilkie Andrew O M
Publisher
Bethesda: Elsevier Limited
Journal title
Language
English
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Publication information
Publisher
Bethesda: Elsevier Limited
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More information
Scope and Contents
Contents
PurposeEnrichment 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 nearBMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of cran...
Alternative Titles
Full title
SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
Authors, Artists and Contributors
Author / Creator
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
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
Boardman-Pretty, F
Boyadjiev, Simeon A
Wilkie Andrew O M
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2475004365
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2475004365
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0817-2
