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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Daniel Brooks; Elizabeth Burke; Sukyeong Lee; Tanya N. Eble; Melanie O’Leary; Ikeoluwa Osei-Owusu; Heidi L. Rehm; Shweta U. Dhar; Lisa Emrick; David Bick; Michelle Nehrebecky; Ellen Macnamara; Dídac Casas-Alba; Judith Armstrong; Carolina Prat; Antonio F. Martínez-Monseny; Francesc Palau; Pengfei Liu; David Adams; Seema Lalani; Jill A. Rosenfeld; Lindsay C. Burrage
Human Genetics · Vol. 143, Issue 3 · pp. 279-291 · 2024
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Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2024-03-01
Publication Year2024
Volume143
Issue3
Pages279-291
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-024-02657-2

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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