Lanean...
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...
Gorde:
| Argitaratua izan da: | Medicine (Baltimore) |
|---|---|
| Egile Nagusiak: | , , , |
| 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 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|