The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1

2021 ◽  
Author(s):  
Mine Koprulu ◽  
Aneeta Kumare ◽  
Anisa Bibi ◽  
Sajid Malik ◽  
Aslıhan Tolun
Keyword(s):  
Fraser Syndrome

scholarly journals A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1

2004 ◽  
Vol 36 (2) ◽  
pp. 172-177 ◽  
Author(s):  
Kogo Takamiya ◽  
Vassiliki Kostourou ◽  
Susanne Adams ◽  
Shalini Jadeja ◽  
Georges Chalepakis ◽  
...  
Keyword(s):  
Pdz Domain ◽  
Functional Link ◽  
Fraser Syndrome ◽  
Domain Protein ◽  
Syndrome Protein

Mutation analysis of theFRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

2006 ◽  
Vol 140A (18) ◽  
pp. 1909-1914 ◽  
Author(s):  
A. Slavotinek ◽  
C. Li ◽  
E.H. Sherr ◽  
A.E. Chudley
Keyword(s):  
Mutation Analysis ◽  
Fraser Syndrome ◽  
New Mutations

Bilateral Hip Dysplasia and Genu Valgum in Fraser Syndrome

Orthopedics ◽  
2008 ◽  
Vol 31 (1) ◽  
pp. 1-3 ◽  
Author(s):  
José A. Herrera-Soto ◽  
Charles T. Price
Keyword(s):  
Hip Dysplasia ◽  
Genu Valgum ◽  
Fraser Syndrome

scholarly journals Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Aimé Mbonda ◽  
Francky Teddy Endomba ◽  
Ulrick S. Kanmounye ◽  
Jan René Nkeck ◽  
Joel Noutakdie Tochie
Keyword(s):  
Case Report ◽  
Low Resource ◽  
Fraser Syndrome ◽  
Resource Setting ◽  
Low Resource Setting

Branchio-oto-renal Syndrome (BOR Syndrome, Melnick-Fraser Syndrome)

1998 ◽  
Vol 77 (3) ◽  
pp. 172-172
Author(s):  
Ann Haskins Olney ◽  
Peg Kolodziej
Keyword(s):  
Fraser Syndrome ◽  
Bor Syndrome

Fraser Syndrome

2018 ◽  
pp. 547-549.e1
Author(s):  
Methodius G. Tuuli ◽  
Anthony O. Odibo
Keyword(s):  
Fraser Syndrome
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