Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4 ‐related disease

2021 ◽  
Author(s):  
Maxime Cadieux‐Dion ◽  
Susan Hughes ◽  
Kendra Engleman ◽  
Eric T. Rush ◽  
Carol Saunders
Keyword(s):  
Related Disease ◽  
Phenotypic Spectrum ◽  
Nager Syndrome

scholarly journals Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

2019 ◽  
Vol 18 (2) ◽  
pp. 265-270 ◽  
Author(s):  
Katherine Keenan ◽  
Annie Dupuis ◽  
Katherine Griffin ◽  
Carlo Castellani ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

2021 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Holly A. Dubbs ◽  
Laura Adang ◽  
Steven L. Kugler ◽  
Elizabeth M. McCormick ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Related Disease ◽  
Phenotypic Spectrum

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Serum IgG4 levels outperform IgG4/IgG RNA ratio in differential diagnosis of IgG4-related disease

2020 ◽  
Author(s):  
L Schulte ◽  
F Arnold ◽  
F Siegel ◽  
J Backhus ◽  
L Perkhofer ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Serum Igg4

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum

Genetic mutations in bladder paragangliomas - not just SDHB-related disease

2019 ◽  
Author(s):  
Samantha Anandappa ◽  
Louise Breen ◽  
Ramesh Thurairaja ◽  
Dimitra Christodoulou ◽  
Audrey Jacques ◽  
...  
Keyword(s):  
Genetic Mutations ◽  
Related Disease
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