Human genes for Loeys-Dietz syndrome 5
Loeys-Dietz syndrome 5 [DOID:0070236]
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
Synonyms: Loeys-Dietz syndrome 5, DOID:0070236, LoeysDietz syndrome 5, LDS5, Reinhoff syndrome ...