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pro vyhledávání: '"Caley Laxer"'
Autor:
Khalid Hussain, Sophia Tahir, Atilla Cayir, Maha Sherif, Caley Laxer, Huseyin Demirbilek, Sofia Rahman
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 29(5)
Background Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alstrom syndrome 1 (ALMS1) gene l