| 词条 | Eiken syndrome |
| 释义 |
| name = {{PAGENAME}} | synonyms = | image = Autosomal recessive - en.svg | image_size = 160px | alt = | caption = This condition is inherited in an autosomal recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Eiken syndrome is a rare[1] autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait.[2][3] References1. ^{{cite web|url=https://openaccess.leidenuniv.nl/bitstream/handle/1887/5422/02.pdf?sequence=10|title= Novel mutations in the PTHR1 causing Blomstrand Osteochondrodysplasia type I and II|first1= Jakomijn|last1= Hoogendam|first2= Hetty |last2=Farih-Sips|first3= Liliane|last3=C. Wynaendts|first4= Clemens|last4=W.G.M Löwik|first5= Jan|last5=M. Wit|first6=Marcel|last6= Karperien|journal= Blomstrand Osteochondrodysplasia|pages=38}} 2. ^Eiken, M., Prag, J., Petersen, K. and Kaufmann, H. (1984) A new familialskeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur. J. Pediatr., 141, 231–235. 3. ^{{cite web|url=http://www.gghjournal.com/volume21/2/ab06.cfm|title=The Many Faces of PTHR1 Mutations|journal=Growth, Genetics & Hormones|volume=21 |issue=2|date=June 2005}} Further reading
External links{{Medical resources| ICD10 = | ICD9 = | ICDO = | OMIM = 600002 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 79106 }} 1 : Rare syndromes |
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