Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6 ‐CDG ”

2021 ◽  
Author(s):  
Licia Lugli ◽  
Marzia Pollazzon ◽  
Stefania Bigoni ◽  
Stefano Giuseppe Caraffi ◽  
Alessandra Ferlini ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Phenotypic Spectrum ◽  
Homozygous Nonsense Mutation

Very late presentation of a disorder of sex development

Andrologia ◽  
2017 ◽  
Vol 49 (10) ◽  
pp. e12831 ◽  
Author(s):  
J. M. Martins ◽  
M. Fraga ◽  
J. Miguens ◽  
F. Tortosa ◽  
B. Marques ◽  
...  
Keyword(s):  
Late Presentation ◽  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

2012 ◽  
Vol 59 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Sezgin Gunes ◽  
Ramazan Asci ◽  
Gülsen Okten ◽  
Fatih Atac ◽  
Onur E. Onat ◽  
...  
Keyword(s):  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

2014 ◽  
Vol 134 (1) ◽  
pp. 215-218.e3 ◽  
Author(s):  
Siobhan O. Burns ◽  
Vincent Plagnol ◽  
Beatriz Morillo Gutierrez ◽  
Daifulah Al Zahrani ◽  
James Curtis ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Mycobacterial Infection ◽  
Homozygous Nonsense Mutation

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia

2021 ◽  
pp. 104260
Author(s):  
Ivana Radulovic ◽  
Alma Kuechler ◽  
Michael M. Schündeln ◽  
Michael Paulussen ◽  
Nils von Neuhoff ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Nonsense Mutation ◽  
Homozygous Nonsense Mutation
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