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QRICH1 Mutations cause a Chondrodysplasia with Developmental Delay

In many children with short stature, the etiology of the decreased linear growth remains unknown. We sought to identify the underlying genetic etiology in a patient with short stature, irregular growth plates of the proximal phalanges, developmental delay, and mildly dysmorphic facial features. Exom...

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Detalles Bibliográficos
Publicado en:Clin Genet
Main Authors: Lui, Julian C., Hee Jee, Youn, Lee, Audrey, Yue, Shanna, Wagner, Jacob, Donnelly, Deirdre E., Vogt, Karen S., Baron, Jeffrey
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6353565/
https://ncbi.nlm.nih.gov/pubmed/30281152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13457
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