Zobrazeno 1 - 2 of 2 pro vyhledávání: '"Hanen Abdelraouf"'
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Akademický článek
An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
Autor: Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki
Publikováno v: Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 43-46 (2018)
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 p
Externí odkaz: https://doaj.org/article/f44696623d704e63a26f5153f4cb1f6f
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2
An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
Autor: Fatma Alzahrani, Brahim Tabarki, Ameur Ammari, Hanen Abdelraouf, Amal Alhashem, Fowzan S. Alkuraya
Publikováno v: Journal of Biochemical and Clinical Genetics. :43-46
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 p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ee39ec22c434ef4535bd92aa0b29c17d
https://doi.org/10.24911/jbcgenetics/183-1531458597
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