| 词条 | Lenz–Majewski syndrome |
| 释义 |
| name = Lenz–Majewski syndrome | synonyms = LMHD [1] | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Lenz–Majewski syndrome is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia, and hypertelorism.[2]{{rp|571}} In 2013, whole-exome sequencing showed that a missense mutation resulting in overactive phosphatidylserine synthase 1 was the cause of LMS, making it the first known human disease to be caused by disrupted phosphatidylserine metabolism. The researchers suggested a link between the condition and bone metabolism.[3] See also
References1. ^{{cite web |title=OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD |url=https://omim.org/entry/151050 |website=omim.org |accessdate=14 March 2019 |language=en-us}} 2. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 3. ^http://www.nature.com/ng/journal/v46/n1/full/ng.2829.html External links{{Medical resources| DiseasesDB = 32264 | ICD10 = Q87.1 | ICD9 = | ICDO = | OMIM = 151050 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537115 }}
3 : Genodermatoses|Genetic disorders with OMIM but no gene|Syndromes |
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