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

Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Author(s)
von der Lippe C.
Tveten K.
Prescott T.E.
Holla Ø.L.
Busk Ø.L.
Burke K.B.
Sansbury F.H.
Baptista J.
Fry A.E.
Lim D.
Jolles S.
Evans J.
Osio D.
Macmillan C.
Bruno Irene
Faletra Flavio
Climent S.
Urreitzi R.
Hoenicka J.
Palau F.
Cohen A.S.A.
Engleman K.
Zhou D.
Amudhavalli S.M.
Jeanne M.
Bonnet-Brilhault F.
Lévy J.
Drunat S.
Derive N.
Haug M.G.
Thorstensen W.M.
DOI
10.1002/ajmg.a.62492
Project(s)
Caratterizzazione e definizione di casistiche e quadri clinici esemplificativi e rari in pediatria, finalizzata alla divulgazione didattica e all'incremento delle capacità diagnostiche e terapeutiche
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C.A.R.S.O. - I.R.C.C.S. materno infantile Burlo Garofolo

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