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Endocrinological and phenotype evaluation in a patient with acrodysostosis
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endo...
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| Publicado no: | Clin Pediatr Endocrinol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Japanese Society for Pediatric
Endocrinology
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5537214/ https://ncbi.nlm.nih.gov/pubmed/28804209 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.26.177 |
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