Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue,macrocephaly, and elevated fetal hemoglobin |
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Authors: | Charlotte von der Lippe,Kristian Tveten,Trine E. Prescott,
ystein L. Holla,
yvind L. Busk,Katherine B. Burke,Francis H. Sansbury,Jú lia Baptista,Andrew E. Fry,Derek Lim,Stephen Jolles,Jennifer Evans,Deborah Osio,Carol Macmillan,Irene Bruno,Flavio Faletra,Salvador Climent,Roser Urreitzi,Janet Hoenicka,Francesc Palau,Ana S. A. Cohen,Kendra Engleman,Dihong Zhou,Shivarajan M. Amudhavalli,M d ric Jeanne,Fr d rique Bonnet-Brilhault,Jonathan L vy,S verine Drunat,Nicolas Derive,Marte G. Haug,Wenche M. Thorstensen |
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Affiliation: | 1. Department of Medical Genetics, Telemark Hospital Trust, Skien, NorwaySearch for more papers by this authorTrine E. Prescott, ?ystein L. Holla, ?yvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Júlia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faletra, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S. A. Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M. Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G. Haug, Wenche M. Thorstensen, Charlotte von der Lippe, Kristian Tveten, Trine E. Prescott, ?ystein L. Holla, ?yvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Júlia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faletra, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S. A. Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M. Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G. Haug, Wenche M. Thorstensen, First published: 13 September 2021 |
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Abstract: | |
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Keywords: | developmental delay intellectual disability macrocephaly pharyngeal lymphoid hypertrophy whole exome sequencing ZBTB7A |
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