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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Medicine (Baltimore)
Egile Nagusiak: Hong, Seok Woo, Huh, Kyung-Hoe, Lee, Jeong Keun, Kang, Jeong-Hyun
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer Health 2018
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6320149/
https://ncbi.nlm.nih.gov/pubmed/30558059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013644
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