A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Osteogenesis imperfecta (OI) is genetically heterogeneous. Mutations in COL1A1 and COL1A2 are responsible for at least 90% of the cases, which are transmitted in an autosomal dominant manner or are de novo events. We identified a Thai boy with OI whose parents were first cousins. Because the proband...

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Vydáno v:Genet Mol Biol
Hlavní autoři: Tongkobpetch, Siraprapa, Limpaphayom, Noppachart, Sangsin, Apiruk, Porntaveetus, Thantrira, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Genética 2017
Témata:
Human and Medical Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5738616/
https://ncbi.nlm.nih.gov/pubmed/28956891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2016-0033
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