scholarly journals Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal osteoclast resorption pattern due to a LRRK1 splice site mutation

Bone Reports ◽  
2020 ◽  
Vol 13 ◽  
pp. 100618 ◽  
Author(s):  
Antonia Howaldt ◽  
Anna-Floriane Hennig ◽  
Tim Rolvien ◽  
Uta Rössler ◽  
Nina Stelzer ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Metaphyseal Dysplasia ◽  
Osteonecrosis Of The Jaws ◽  
Osteoclast Resorption

Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
O. Schwartz ◽  
J. Althaus ◽  
B. Fiedler ◽  
K. Heß ◽  
W. Paulus ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation
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