Mutations in B9D1 and MKS1 cause mild Joubert syndrome: Expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Romani, Marta ^a   Micalizzi, Alessia ^a,b   Kraoua, Ichraf ^c   Dotti, Maria Teresa ^d   Cavallin, Mara ^e   Sztriha, László ^f   Ruta, Rosario ^a   Mancini, Francesca ^a   Mazza, Tommaso ^a   Castellana, Stefano ^a   Hanene, Benrhouma ^c   Carluccio, Maria Alessandra ^d   Darra, Francesca ^e   Máté, Adrienn ^f   Zimmermann, Alíz ^f   Gouider Khouja, Neziha ^c   Valente, Enza Maria ^a,g  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c Institut National de Neurologie Tunisia   (Tunisia)

^d UNIVERSITY OF SIENA   (Italy)

^e Child Neuropsychiatry and Psychology Unit   (Italy)

^f UNIVERSITY OF SZEGED   (Hungary)

^g UNIVERSITY OF SALERNO   (Italy)

Author keywords

B9D1; Ciliopathies; Genotype phenotype correlates; Joubert syndrome; Meckel syndrome; MKS1; Primary cilium

Indexed keywords

B9D1 PROTEIN; MKS1 PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JOUBERT SYNDROME; KIDNEY; LIVER; MALE; MECKEL SYNDROME; MOLAR TOOTH; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD;

ADULT; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; EYE ABNORMALITIES; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; POLYCYSTIC KIDNEY DISEASES; PROTEINS; RETINA; SEVERITY OF ILLNESS INDEX;

EID: 84900873114     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-72     Document Type: Article

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