Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing lo...
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
About this item
Full title
Author / Creator
Brooks, Daniel , Burke, Elizabeth , Lee, Sukyeong , Eble, Tanya N. , O’Leary, Melanie , Osei-Owusu, Ikeoluwa , Rehm, Heidi L. , Dhar, Shweta U. , Emrick, Lisa , Bick, David , Nehrebecky, Michelle , Macnamara, Ellen , Casas-Alba, Dídac , Armstrong, Judith , Prat, Carolina , Martínez-Monseny, Antonio F. , Palau, Francesc , Liu, Pengfei , Adams, David , Lalani, Seema , Rosenfeld, Jill A. , Burrage, Lindsay C. and Undiagnosed Diseases Network
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Biallelic pathogenic variants in
MAP3K20
, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic...
Alternative Titles
Full title
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Authors, Artists and Contributors
Author / Creator
Burke, Elizabeth
Lee, Sukyeong
Eble, Tanya N.
O’Leary, Melanie
Osei-Owusu, Ikeoluwa
Rehm, Heidi L.
Dhar, Shweta U.
Emrick, Lisa
Bick, David
Nehrebecky, Michelle
Macnamara, Ellen
Casas-Alba, Dídac
Armstrong, Judith
Prat, Carolina
Martínez-Monseny, Antonio F.
Palau, Francesc
Liu, Pengfei
Adams, David
Lalani, Seema
Rosenfeld, Jill A.
Burrage, Lindsay C.
Undiagnosed Diseases Network
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11191325
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11191325
Other Identifiers
ISSN
0340-6717,1432-1203
E-ISSN
1432-1203
DOI
10.1007/s00439-024-02657-2
