Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. PATIENT CONCERNS: Our report describes a pediatric patient with...

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Detalles Bibliográficos
Autores principales: Duque-Cordoba, Paola Andrea, Diaz-Ordoñez, Lorena, Gutierrez-Medina, Juan David, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681469/
https://www.ncbi.nlm.nih.gov/pubmed/38013309
http://dx.doi.org/10.1097/MD.0000000000035600

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681469/
https://www.ncbi.nlm.nih.gov/pubmed/38013309
http://dx.doi.org/10.1097/MD.0000000000035600

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