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