Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

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http://www.wikidata.org/entity/Q30582812
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorderDe novo mutations in PLXND1 and REV3L cause Möbius syndromeMoebius sequence -a multidisciplinary clinical approach.The congenital cranial dysinnervation disorders.Congenital and Genetic Ocular Motility Disorders: Update and Considerations.Brainstem tegmental lesions in neonates with hypoxic-ischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome.Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.Moebius syndrome: clinical features, diagnosis, management and early intervention.Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome.A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia.
P2860

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Item
http://www.wikidata.org/entity/Q30582812
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@ast
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@en
type
label
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@ast
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@en
prefLabel
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@ast
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
@en
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P2093
P2860
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P577
P698
P932
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P1476
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome
@en
P2093
P2860
P304
P31
P356
10.1016/J.OPHTHA.2014.01.006
P433
P478
P50
P577
P698
P932