Food Allergy in Infancy and Childhood

1989 ◽  
2020 ◽  
Vol 31 (7) ◽  
pp. 813-826 ◽  
Author(s):  
Debra de Silva ◽  
Susanne Halken ◽  
Chris Singh ◽  
Antonella Muraro ◽  
Elizabeth Angier ◽  
...  

2011 ◽  
Vol 42 (5) ◽  
pp. 34
Author(s):  
SHERRY BOSCHERT
Keyword(s):  

2005 ◽  
Vol 38 (21) ◽  
pp. 78
Author(s):  
SHERRY BOSCHERT
Keyword(s):  

2019 ◽  
Author(s):  
WK Yang ◽  
DS Kim ◽  
E Son ◽  
YM Lee ◽  
DS Lee ◽  
...  

Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.


Author(s):  
Yukoh Aihara ◽  
Yasuto Kondo ◽  
Ichiro Nomura ◽  
Mitsuaki Kimura
Keyword(s):  

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