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Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype
Author(s) -
Drera B,
Tadini G,
Barlati S,
Colombi M
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00942.x
Subject(s) - ehlers–danlos syndrome , medicine , biology , genetics , pathology