| Autor: |
Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 43-46 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1658-807X |
| DOI: |
10.24911/JBCGenetics/183-1531458597 |
| Popis: |
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 arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement. Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis. [JBCGenetics 2018; 1(1.000): 43-46] |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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