Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue,macrocephaly, and elevated fetal hemoglobin期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue,macrocephaly, and elevated fetal hemoglobin

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

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 https://doi.org/10.1002/ajmg.a.62492 [Correction?added on 30 September 2021, after first online publication: Table 1 was incomplete in the earlier version. It has been updated correctly in this version.] Funding information: Fundación Isabel Gemio supported by Italian Ministry of Health, Grant/Award Number: RCR-2019-23669117_001;2. Generalitat de Catalunya, Grant/Award Number: SLT002/16/00174;3. Wellcome;4. Health Innovation Challenge Fund, Grant/Award Number: HICF-1009-003

Abstract:

Keywords:	developmental delay intellectual disability macrocephaly pharyngeal lymphoid hypertrophy whole exome sequencing ZBTB7A

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