Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs) - Wikidata - awgldk - TriplyDB

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

http://www.wikidata.org/entity/Q35359083

about

Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study De novo mutations in PLXND1 and REV3L cause Möbius syndrome Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?Congenital cranial dysinnervation disorders.Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve.Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog.Duane retraction syndrome: causes, effects and management strategies.Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.Progressive External Ophthalmoplegia.

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Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

http://www.wikidata.org/entity/Q35359083

description

2011 nî lūn-bûn

@nan

2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

@ast

Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

@en

type

label

Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

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Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

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prefLabel

Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

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Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

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Congenital innervation dysgene ...... sinnervation disorders (CCDDs)

@en

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A A Assaf

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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

Deletion of chromosome 13 in Moebius syndrome.

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Okihiro syndrome is caused by SALL4 mutations

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1251-1261

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scholarly article

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10.1038/EYE.2011.38

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10

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25

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1011242942

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