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Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Author(s) -
Silveira Cynthia,
Leal Gabriela F.,
Cavalcanti Denise P.
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.37858
Subject(s) - mutation , type (biology) , web site , content (measure theory) , world wide web , computer science , genetics , information retrieval , computational biology , biology , the internet , mathematics , gene , ecology , mathematical analysis