An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

2021 ◽  
Author(s):  
Ayesha Zaka ◽  
Shaheen Shahzad ◽  
Hadi Zahid Rao ◽  
Sadia Kanwal ◽  
Asma Gul ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Deletion Mutation ◽  
Ellis Van Creveld Syndrome ◽  
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

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

scholarly journals Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

2013 ◽  
Vol 2 (2) ◽  
pp. 124-133 ◽  
Author(s):  
María González‐del Pozo ◽  
Cristina Méndez‐Vidal ◽  
Javier Santoyo‐Lopez ◽  
Alicia Vela‐Boza ◽  
Nereida Bravo‐Gil ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Phenotypic Variability ◽  
Intrafamilial Phenotypic Variability
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