Laryngomalacia, recurrent overgrowth of pharyngeal lymphoid tissue, mild developmental delay and macrocephaly in a girl with a de novo heterozygous mutation in ZBTB7A

被引：0
|
作者：
von der Lippe, C. [1 ]
Tveten, K. [1 ]
Holla, O. L. [1 ]
Busk, O. L. [1 ]
Haug, M. G. [2 ]
Thorstensen, W. [3 ,4 ]
Aasebostol, A. K. [3 ]
Prescott, T. [1 ]
机构：
[1] Telemark Hosp Trust, Dept Med Genet, Skien, Norway
[2] St Olavs Univ Hosp, Dept Med Genet, Trondheim, Norway
[3] St Olavs Univ Hosp, Dept Otolaryngol Head & Neck Surg, Trondheim, Norway
[4] Norwegian Univ Sci & Technol NTNU, Dept Neuromed & Movement Sci, Trondheim, Norway
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P08.27
引用
收藏
页码：870 / 871
页数：2
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  • [1] 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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    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (01) : 272 - 282
  • [2] Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin (vol 188A, pg 272, 2021)
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    Prescott, Trine E.
    Holla, Oystein L.
    Busk, Oyvind L.
    Burke, Katherine B.
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    Baptista, Julia
    Fry, Andrew E.
    Lim, Derek
    Jolles, Stephen
    Evans, Jennifer
    Osio, Deborah
    Macmillan, Carol
    Bruno, Irene
    Faletra, Flavio
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    Urreitzi, Roser
    Hoenicka, Janet
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    Cohen, Ana S. A.
    Engleman, Kendra
    Zhou, Dihong
    Amudhavalli, Shivarajan M.
    Jeanne, Mederic
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    Levy, Jonathan
    Drunat, Severine
    Derive, Nicolas
    Haug, Marte G.
    Thorstensen, Wenche M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (06) : 1930 - 1930
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