scholarly journals Inter‐ and intrafamilial phenotypic variability in individuals with collagen‐related Osteogenesis Imperfecta

2020 ◽  
Author(s):  
Lidiia Zhytnik ◽  
Katre Maasalu ◽  
Tiia Reimand ◽  
Binh Ho Duy ◽  
Sulev Kõks ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

scholarly journals The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation

2016 ◽  
Vol 31 (2) ◽  
pp. 257-258 ◽  
Author(s):  
Lucia Ricciardi ◽  
Simona Petrucci ◽  
Daniela Di Giuda ◽  
Laura Serra ◽  
Barbara Spanò ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of theFRDA1gene

2004 ◽  
Vol 19 (12) ◽  
pp. 1424-1431 ◽  
Author(s):  
AmanPreet Badhwar ◽  
An Jansen ◽  
Frederick Andermann ◽  
Massimo Pandolfo ◽  
Eva Andermann
Keyword(s):  
Phenotypic Variability ◽  
Spastic Paraplegia ◽  
Intrafamilial Phenotypic Variability

Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28XTWIST mutation

2002 ◽  
Vol 109 (3) ◽  
pp. 218-225 ◽  
Author(s):  
H�l�ne Dollfus ◽  
Partha Biswas ◽  
Govindsamy Kumaramanickavel ◽  
Corinne Stoetzel ◽  
Renaud Quillet ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Large Family ◽  
Intrafamilial Phenotypic Variability

scholarly journals Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia

2014 ◽  
Vol 22 (10) ◽  
pp. 1160-1164 ◽  
Author(s):  
Christine Hofmann ◽  
Hermann Girschick ◽  
Etienne Mornet ◽  
Doris Schneider ◽  
Franz Jakob ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

2017 ◽  
Vol 173 (5) ◽  
pp. 1364-1368 ◽  
Author(s):  
Joanna Walczak-Sztulpa ◽  
Anna Wawrocka ◽  
Agata Sobierajewicz ◽  
Lukasz Kuszel ◽  
Jan Zawadzki ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Sensenbrenner Syndrome ◽  
Intrafamilial Phenotypic Variability

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

2012 ◽  
Vol 50 (1) ◽  
pp. 21-24 ◽  
Author(s):  
Frank Rauch ◽  
Pierre Moffatt ◽  
Moira Cheung ◽  
Peter Roughley ◽  
Liljana Lalic ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Phenotypic Variability ◽  
Osteogenesis Imperfecta Type ◽  
Type V

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation inRNASEH2C

2013 ◽  
Vol 161 (2) ◽  
pp. 338-342 ◽  
Author(s):  
Julie Vogt ◽  
Shakti Agrawal ◽  
Zala Ibrahim ◽  
Taunton R. Southwood ◽  
Sunny Philip ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability
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