scholarly journals Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1

2013 ◽  
Vol 28 (7) ◽  
pp. 1107 ◽  
Author(s):  
Sung Yoon Cho ◽  
Chang-Seok Ki ◽  
Young Bae Sohn ◽  
Su Jin Kim ◽  
Se Hyun Maeng ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Compound Heterozygous ◽  
Osteogenesis Imperfecta Type ◽  
Compound Heterozygous Mutations

scholarly journals Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Yen-An Tang ◽  
Lin-Yen Wang ◽  
Chiao-May Chang ◽  
I-Wen Lee ◽  
Wen-Hui Tsai ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Lethal osteogenesis imperfecta type XX caused by compound heterozygous frameshift mutations in MESD

Bone Reports ◽  
2021 ◽  
Vol 14 ◽  
pp. 100851
Author(s):  
Julian Stürznickel ◽  
Katharina Jaehn-Rickert ◽  
Jozef Zustin ◽  
Maximilian M. Delsmann ◽  
Helga Rehder ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Compound Heterozygous ◽  
Osteogenesis Imperfecta Type ◽  
Frameshift Mutations

scholarly journals Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX

2021 ◽  
Author(s):  
Julian Stürznickel ◽  
Katharina Jähn‐Rickert ◽  
Jozef Zustin ◽  
Floriane Hennig ◽  
Maximilian M. Delsmann ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Compound Heterozygous ◽  
Osteogenesis Imperfecta Type ◽  
Frameshift Mutations

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V
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