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Results 1 - 3 of 3
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Cutis Laxa
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
unassigned
0
Cutis Laxa
Lenz-Majewski syndrome in a patient from Egypt.
unassigned
0
Dwarfism
Lenz-Majewski Hyperostotic Dwarfism With Hyperphosphoserinuria From A Novel Mutation In PTDSS1 Encoding Phosphatidylserine Synthase 1.
unassigned
0
Results 1 - 3 of 3