scholarly journals Bilateral compartment of the hands in prolidase deficiency syndrome

2021 ◽  
pp. 101912
Author(s):  
Raphael Tasar ◽  
Philipp Alexander Bergmann ◽  
Waltraud Anemüller ◽  
Alexander Herz ◽  
Philipp Neis ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Prolidase Deficiency

A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome

2017 ◽  
Author(s):  
Edna Roche ◽  
Anne McGowan ◽  
Olympia Koulouri ◽  
Marc-Olivier Turgeon ◽  
Adeline K Nicholas ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Family Screening
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