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Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling
Author(s) -
BaratHouari Mouna,
Baujat Geneviève,
Tran Mau Them Frédéric,
Fabre Aurélie,
Geneviève David,
Touitou Isabelle
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.37374
Subject(s) - genetic counseling , genetic inheritance , genetics , medicine , biology , gene