Literature DB >> 31303368

Cerebellar Cysts and Dysplasias: More Diagnoses to Consider.

Arundhati Banerjee1, Sameer Vyas2, Naveen Sankhyan3.   

Abstract

Entities:  

Keywords:  LAMA1 mutation; Poretti-Boltshauser syndrome; Retinal dystrophy; Short pons; Square-shaped fourth ventricle

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Year:  2019        PMID： 31303368     DOI： 10.1016/j.pediatrneurol.2019.02.021

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  2 in total

1.  Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.

Authors:  Muhsin Elmas; Basak Gogus; Mustafa Solak
Journal:  Clin Med Insights Case Rep       Date:  2020-08-18

2.  Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Authors:  Laura Powell; Eric Olinger; Sarah Wedderburn; Vijayalakshmi Salem Ramakumaran; Usha Kini; Jill Clayton-Smith; Simon C Ramsden; Sarah J Rice; Miguel Barroso-Gil; Ian Wilson; Lorraine Cowley; Sally Johnson; Elizabeth Harris; Tara Montgomery; Marta Bertoli; Eugen Boltshauser; John A Sayer
Journal:  Brain Commun       Date:  2021-07-16
  2 in total

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