Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene-Reference-Cited by-同舟云学术

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Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene

Published:2024-02 Issue: Volume:74 Page:103267
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

C. Mazzotta,V. Serpieri,A. Orsi,S. Cavan,E. Rossi,F. Stanzial,E.M. Valente

Funder

Ministero della Salute

Ministero dell’Istruzione, dell’Università e della Ricerca

Fondazione Pierfranco e Luisa Mariani

Department of Molecular Medicine, University of Pavia

Governo Italiano Ministero dell'Istruzione dell'Università e della Ricerca

Fondazione Telethon

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference4 articles.

1. Genotype-phenotype correlates in Joubert syndrome: A review;Gana;Am J Med Genet C Semin Med Genet,2022

2. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969

3. C5orf42 is the major gene responsible for OFD syndrome type VI;Lopez;Hum Genet,2014

4. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population;Srour;Am J Hum Genet,2012

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