Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports

RATIONALE: Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dento...

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Detalles Bibliográficos
Autores principales: Hong, Seok Woo, Huh, Kyung-Hoe, Lee, Jeong Keun, Kang, Jeong-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320149/
https://www.ncbi.nlm.nih.gov/pubmed/30558059
http://dx.doi.org/10.1097/MD.0000000000013644

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320149/
https://www.ncbi.nlm.nih.gov/pubmed/30558059
http://dx.doi.org/10.1097/MD.0000000000013644

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