AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente, Enza Maria

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. [electronic resource] - Annals of neurology Mar 2006 - 527-34 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

0364-5134

10.1002/ana.20749 doi


Adaptor Proteins, Signal Transducing--genetics
Adaptor Proteins, Vesicular Transport
Adolescent
Adult
Animals
Brain Diseases--diagnosis
Brain Stem--pathology
Child
Child, Preschool
Chromosome Disorders--genetics
DNA Mutational Analysis--methods
Developmental Disabilities--genetics
Family Health
Female
Gene Frequency
Humans
Infant
Magnetic Resonance Imaging--methods
Male
Models, Molecular
Mutation
Polymorphism, Genetic