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...

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Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Sangsin, Apiruk, Kovitvanitcha, Dool, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048891/
https://ncbi.nlm.nih.gov/pubmed/30012084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0639-0
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