scholarly journals Anesthesia and Postoperative Analgesia for a Patient with Mungan Syndrome, Autosomal Recessive Familial Visceral Myopathy: A Case Report

2021 ◽  
Vol 11 (3) ◽  
pp. 288-290
Author(s):  
Mert Canbaz ◽  
Nur Canbolat ◽  
Esra Saka ◽  
Mehmet İlke Büget
Keyword(s):  
Case Report ◽  
Postoperative Analgesia ◽  
Autosomal Recessive ◽  
Visceral Myopathy

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair
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