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Truncation of POC1A associated with short stature and extreme insulin resistance
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene. POC1A encodes a...
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| Publicado no: | J Mol Endocrinol |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4722288/ https://ncbi.nlm.nih.gov/pubmed/26336158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/JME-15-0090 |
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