TY  - GEN
AU  - Valente,Enza Maria
AU  - Brancati,Francesco
AU  - Silhavy,Jennifer L
AU  - Castori,Marco
AU  - Marsh,Sarah E
AU  - Barrano,Giuseppe
AU  - Bertini,Enrico
AU  - Boltshauser,Eugen
AU  - Zaki,Maha S
AU  - Abdel-Aleem,Alice
AU  - Abdel-Salam,Ghada M H
AU  - Bellacchio,Emanuele
AU  - Battini,Roberta
AU  - Cruse,Robert P
AU  - Dobyns,William B
AU  - Krishnamoorthy,Kalpathy S
AU  - Lagier-Tourenne,Clotilde
AU  - Magee,Alex
AU  - Pascual-Castroviejo,Ignacio
AU  - Salpietro,Carmelo D
AU  - Sarco,Dean
AU  - Dallapiccola,Bruno
AU  - Gleeson,Joseph G
TI  - AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
SN  - 0364-5134
PY  - 2006///0509
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Adaptor Proteins, Vesicular Transport
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Brain Diseases
KW  - diagnosis
KW  - Brain Stem
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Disorders
KW  - DNA Mutational Analysis
KW  - methods
KW  - Developmental Disabilities
KW  - Family Health
KW  - Female
KW  - Gene Frequency
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Models, Molecular
KW  - Mutation
KW  - Polymorphism, Genetic
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ana.20749
ER  -