Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa, Joanna
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. [electronic resource] - American journal of human genetics Jun 2010 - 949-56 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.04.012 doi
Adaptor Proteins, Signal Transducing
Child
Child, Preschool
Ciliary Motility Disorders--genetics
Craniofacial Abnormalities--genetics
Cytoskeletal Proteins
Ectodermal Dysplasia--genetics
Female
Humans
Infant
Male
Mutation
Proteins--genetics
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. [electronic resource] - American journal of human genetics Jun 2010 - 949-56 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.04.012 doi
Adaptor Proteins, Signal Transducing
Child
Child, Preschool
Ciliary Motility Disorders--genetics
Craniofacial Abnormalities--genetics
Cytoskeletal Proteins
Ectodermal Dysplasia--genetics
Female
Humans
Infant
Male
Mutation
Proteins--genetics