Author:
Serpieri V.,Orsi A.,Mazzotta C.,Cavan S.,Rossi E.,Scelsa B.,Valente E.M.
Subject
Cell Biology,Developmental Biology,General Medicine
Reference5 articles.
1. Mutation spectrum of Joubert syndrome and related disorders among Arabs;Ben-Salem;Hum. Genome Var.,2014
2. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria;Dixon-Salazar;Am. J. Hum. Genet.,2004
3. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome;Ferland;Nat. Genet.,2004
4. Genotype-phenotype correlates in Joubert syndrome: A review;Gana;Am. J. Med. Genet. C Semin. Med. Genet.,2022
5. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献