Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

International JSRD Study Group

Research output: Contribution to journalArticlepeer-review

62 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology