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BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired...

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Bibliografiske detaljer
Udgivet i:Clin Genet
Main Authors: Jee, Youn Hee, Sowada, Nadine, Markello, Thomas C., Rezvani, Iraj, Borck, Guntram, Baron, Jeffrey
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389939/
https://ncbi.nlm.nih.gov/pubmed/27748960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12887
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