nf1 microdeletion syndrome
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A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

2021 ◽  
Vol 64 (5) ◽  
pp. 104190
Author(s):  
Claudia Santoro ◽  
Simona Riccio ◽  
Federica Palladino ◽  
Ferdinando Aliberti ◽  
Marco Carotenuto ◽  
...  
Keyword(s):  
Complex Phenotype ◽  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

scholarly journals Rare NF1 microdeletion syndrome in an Omani patient

2018 ◽  
Vol 6 (12) ◽  
pp. 2424-2426
Author(s):  
Musallam Al‐Araimi ◽  
Nishath Hamza ◽  
Ali Al Yahmadi ◽  
Hiba Al Mazrooey ◽  
Afaf Elsheikh ◽  
...  
Keyword(s):  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

scholarly journals ADAP2in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome

2014 ◽  
Vol 51 (7) ◽  
pp. 436-443 ◽  
Author(s):  
Marco Venturin ◽  
Silvia Carra ◽  
Germano Gaudenzi ◽  
Silvia Brunelli ◽  
Guido Roberto Gallo ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Heart Development ◽  
Cardiovascular Malformations ◽  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

scholarly journals NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

2000 ◽  
Vol 66 (1) ◽  
pp. 100-109 ◽  
Author(s):  
Paola Riva ◽  
Lucia Corrado ◽  
Federica Natacci ◽  
Pierangela Castorina ◽  
Bai-Li Wu ◽  
...  
Keyword(s):  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome
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