| 词条 | Elejalde syndrome |
| 释义 |
| name = Elejalde syndrome | synonyms = | image = Autosomal recessive - en.svg | image_size = | alt = | caption = Elejalde syndrome is inherited in an autosomal recessive manner | pronounce = | field = | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Elejalde syndrome (also known as Griscelli syndrome type 1) is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.[1][2] It is associated with MYO5A. See also
References1. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 2. ^{{cite journal|last1=Cahali|first1=Juliana Burihan|last2=Fernandez|first2=Solange Assuncion Villagra|last3=Oliveira|first3=Zilda Najjar Prado|last4=Machado|first4=Maria Cecilia da Mata Rivitti|last5=Valente|first5=Neusa Sakai|last6=Sotto|first6=Mirian Nacagami|title=Elejalde Syndrome: Report of a Case and Review of the Literature|journal=Pediatric Dermatology|volume=21|issue=4|year=2004|pages=479–482|issn=0736-8046|doi=10.1111/j.0736-8046.2004.21414.x}} External links{{Medical resources| DiseasesDB = | ICD10 = E70.3 | ICD9 = | ICDO = | OMIM = 214450 | MedlinePlus = | eMedicineSubj = article | eMedicineTopic = 1069594 | MeshID = C537301 | GeneReviewsName = | Orphanet = 79476 }}{{Pigmentation disorders}}{{Cytoskeletal defects}}{{Cutaneous-condition-stub}} 3 : Disturbances of human pigmentation|Cytoskeletal defects|Rare syndromes |
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