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Long‐term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18‐year‐old male with g.55G>A homozygous mutation in RNU4ATAC
Author(s) -
AbdelSalam Ghada M.H.,
Emam Bayoumi A.,
Khalil Yasmin M.,
AbdelHamid Mohamed S.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37409
Subject(s) - mutation , biology , term (time) , genetics , gene , physics , quantum mechanics
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