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

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

Abstract 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 osteoge...

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Bibliographic Details
Main Authors: Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Medical Genetics
Subjects:
Brain anomalies
Osteogenesis imperfecta
WNT1
Mutation
Phenotype
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-018-0639-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0639-0

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