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A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome
Author(s) -
Machado Renato A.,
Ferreira Shirlene B.,
Martins Luciane,
Ribeiro Mariana M.,
Martelli Daniella R. B.,
Coletta Ricardo D.,
Aguiar Marcos J. B.,
MartelliJúnior Hercílio
Publication year - 2017
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.38389
Subject(s) - proband , mutation , mutant , genetics , gene , content (measure theory) , biology , computational biology , mathematics , mathematical analysis
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