An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation

An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation

Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe art...

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Bibliographic Details
Main Authors: Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2018-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
case report
lama1 gene
arthrogryposis
cerebellum
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=500

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http://www.ejmanager.com/fulltextpdf.php?mno=500

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