Loeys-Dietz Syndrome Mutation Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
6 entries on 1 page. Showing entries 1 - 6.
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ID
Abbreviation
Name
OMIM ID
Individuals
Phenotypes
Associated with genes
00007
LDS
Loeys-Dietz Syndrome
-
10
0
SMAD2
00004
LDS1
Loeys-Dietz syndrome, type 1
609192
135
132
TGFBR1
00005
LDS2
Loeys-Dietz syndrome, type 2
610168
251
247
TGFBR2
00002
LDS3
Loeys-Dietz syndrome, type 3
613795
95
85
SMAD3
00003
LDS4
Loeys-Dietz syndrome, type 4
614816
73
128
TGFB2
00006
LDS5
Loeys-Dietz syndrome, type 5
615582
53
0
TGFB3
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Leiden University Medical Center