BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syn...
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
About this item
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Author / Creator
Miller, Kerry A , Cruz Walma, David A , Pinkas, Daniel M , Tooze, Rebecca S , Bufton, Joshua C , Richardson, William , Manning, Charlotte E , Hunt, Alice E , Cros, Julien , Hartill, Verity , Parker, Michael J , McGowan, Simon J , Twigg, Stephen R F , Chalk, Rod , Staunton, David , Johnson, David , Wilkie, Andrew O M and Bullock, Alex N
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely related paralogue KCTD1 cause scalp-ear-nipple syndrome.MethodsExome sequencing was performed on a two-generatio...
Alternative Titles
Full title
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Authors, Artists and Contributors
Author / Creator
Cruz Walma, David A
Pinkas, Daniel M
Tooze, Rebecca S
Bufton, Joshua C
Richardson, William
Manning, Charlotte E
Hunt, Alice E
Cros, Julien
Hartill, Verity
Parker, Michael J
McGowan, Simon J
Twigg, Stephen R F
Chalk, Rod
Staunton, David
Johnson, David
Wilkie, Andrew O M
Bullock, Alex N
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11041601
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11041601
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg-2023-109531
