Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Item
http://www.wikidata.org/entity/Q48212743
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeMissense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Tooth agenesis and orofacial clefting: genetic brothers in arms?Association of single nucleotide polymorphisms in a glutamate receptor gene (GRM8) with theta power of event-related oscillations and alcohol dependenceWound complications after cleft repair in children with Van der Woude syndrome.Isolated lower lip pitsToward an orofacial gene regulatory network.Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex.Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus.Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report.Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family.Novel IRF6 mutations in Chinese patients with Van der Woude syndrome.Van der Woude syndrome: a case report
P2860

Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.

Item
http://www.wikidata.org/entity/Q48212743
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@en
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@nl
type
label
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@en
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@nl
prefLabel
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@en
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@nl
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Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19990521)84:2<145::AID-AJMG11>3.0.CO;2-L
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P478
P577
P698