The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

BACKGROUND: WNT1 mutations cause bone fragility as well as brain anomalies. There are some reported cases of WNT1 mutations with normal cognition. Genotype and phenotype correlation of WNT1 mutations has not been established. CASE PRESENTATION: Here we present two female siblings with osteogenesis i...

Descripción completa

Detalles Bibliográficos
Autores principales: Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Sangsin, Apiruk, Kovitvanitcha, Dool, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048891/
https://www.ncbi.nlm.nih.gov/pubmed/30012084
http://dx.doi.org/10.1186/s12881-018-0639-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048891/
https://www.ncbi.nlm.nih.gov/pubmed/30012084
http://dx.doi.org/10.1186/s12881-018-0639-0

Ejemplares similares