Medical Knowledge Cockpit synpolydactyly

HOXD13

• A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
• Complete mutation analysis panel of the 39 human HOX genes

FBLN1

• Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells
• The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo
• Fibulin-1 mediates platelet adhesion via a bridge of fibrinogen
• Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family

HOXD13

Somatic tumors

AML*

Tumor types germline

Cancer Syndrom

Translocation partner

NUP98

Name

homeo box D13

Chromosome banding

2q31-q32

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease