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

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Title: Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Authors: Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Armstrong J; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Prat C; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
Corporate Authors: Undiagnosed Diseases Network
Source: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. Date of Electronic Publication: 2024 Mar 07.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Case Reports
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
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Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dhar+SU%22">Dhar SU</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.<br /><searchLink fieldCode="AU" term="%22Emrick+L%22">Emrick L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Bick+D%22">Bick D</searchLink>; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Nehrebecky+M%22">Nehrebecky M</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Macnamara+E%22">Macnamara E</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Casas-Alba+D%22">Casas-Alba D</searchLink>; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Armstrong+J%22">Armstrong J</searchLink>; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Prat+C%22">Prat C</searchLink>; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Monseny+AF%22">Martínez-Monseny AF</searchLink>; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Palau+F%22">Palau F</searchLink>; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Liu+P%22">Liu P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Adams+D%22">Adams D</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Lalani+S%22">Lalani S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. <i>Date of Electronic Publication: </i>2024 Mar 07.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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