Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

about

Genes and brain malformations associated with abnormal neuron positioning Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.

P2860

Q26779045-37C37EE9-ABE4-4E2F-84A6-3522497D738A Q47142076-37C12865-3EDC-414B-AA12-6736C00B7924

P2860

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

Item

http://www.wikidata.org/entity/Q52953394

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@en

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@nl

type

Item

label

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@en

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@nl

prefLabel

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@en

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@nl

P1476

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

@en

P2093

Frances Flinter

http://www.w3.org/2001/XMLSchema#string

Hormos Salimi Dafsari

http://www.w3.org/2001/XMLSchema#string

Jan Dh Jongbloed

http://www.w3.org/2001/XMLSchema#string

Matthew Pitt

http://www.w3.org/2001/XMLSchema#string

Susan Byrne

http://www.w3.org/2001/XMLSchema#string

P2860

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

KLP6: a newly identified kinesin that regulates the morphology and transport of mitochondria in neuronal cells

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

Managing intracellular transport.

Dynamic regulation of SCG10 in regenerating axons after injury.

KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.

P304

1300-1304

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.36873

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

167

http://www.w3.org/2001/XMLSchema#string

P50

Heinz Jungbluth

Jean-Pierre Lin

P577

2015-04-02T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

274407652

http://www.w3.org/2001/XMLSchema#string

P698

25846562

http://www.w3.org/2001/XMLSchema#string

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

about

P2860

P2860

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698