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Q36983068-4FD0C2FB-F169-49EF-8AE5-20961EA4EC4A
Q36983068-4FD0C2FB-F169-49EF-8AE5-20961EA4EC4A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36983068-4FD0C2FB-F169-49EF-8AE5-20961EA4EC4A
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
P2860
Q36983068-4FD0C2FB-F169-49EF-8AE5-20961EA4EC4A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36983068-4FD0C2FB-F169-49EF-8AE5-20961EA4EC4A
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Statement
wasDerivedFrom
2b14afd9bf6378632459a1e3a5b73bf1cdaf81a4
P2860
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.