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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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| Publicado no: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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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