Significant phenotypic variability of Muenke syndrome in identical twins

2009 ◽  
Vol 149A (6) ◽  
pp. 1273-1276 ◽  
Author(s):  
Luis F. Escobar ◽  
Adam K. Hiett ◽  
Anne Marnocha
Keyword(s):  
Phenotypic Variability ◽  
Identical Twins ◽  
Muenke Syndrome

Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation

2014 ◽  
Vol 81 (11) ◽  
pp. 1230-1232 ◽  
Author(s):  
Ankur Singh ◽  
Manisha Goyal ◽  
Somesh Kumar ◽  
Wolfram Kress ◽  
Seema Kapoor
Keyword(s):  
Phenotypic Variability ◽  
Fgfr3 Mutation ◽  
Muenke Syndrome

Phenotypic variability in Muenke syndrome—observations from five Danish families

2020 ◽  
Vol 29 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Louise Öwall ◽  
Sven Kreiborg ◽  
Morten Dunø ◽  
Nuno V. Hermann ◽  
Tron A. Darvann ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Muenke Syndrome

Identical Twins: Individuals or Inseparable Couple?

1989 ◽  
Vol 34 (2) ◽  
pp. 147-178
Author(s):  
Henry P. Edwards
Keyword(s):  
Identical Twins

Different clinical presentation of Wilson's disease in identical twins

2015 ◽  
Vol 53 (05) ◽  
Author(s):  
D Németh ◽  
A Folhoffer ◽  
A Krolopp ◽  
S László ◽  
Z Gerlei ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Clinical Presentation ◽  
Wilson's Disease ◽  
Identical Twins

West syndrome in identical twins with white spots

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
O Debus ◽  
H Bosse ◽  
B Fiedler ◽  
G Kurlemann
Keyword(s):  
West Syndrome ◽  
Identical Twins ◽  
White Spots

Large phenotypic variability of diabetes due to ABCC8 gene mutation illustrated by the paradigm of a family

2019 ◽  
Author(s):  
Theocharis Koufakis ◽  
Amalia Sertedaki ◽  
Elizabeth-Barbara Tatsi ◽  
Christina-Maria Trakatelli ◽  
Spyridon Karras ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Phenotypic Variability ◽  
Abcc8 Gene

Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability

2019 ◽  
Author(s):  
CJ Smith ◽  
AV Maharaj ◽  
R Prasad ◽  
C Hughes ◽  
Y Qamar ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Glucocorticoid Deficiency
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