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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Detalles Bibliográficos
Autores principales: Ueyama, Kaoru, Namba, Noriyuki, Kitaoka, Taichi, Yamamoto, Keiko, Fujiwara, Makoto, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537214/
https://www.ncbi.nlm.nih.gov/pubmed/28804209
http://dx.doi.org/10.1297/cpe.26.177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537214/
https://www.ncbi.nlm.nih.gov/pubmed/28804209
http://dx.doi.org/10.1297/cpe.26.177

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