Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Item
http://www.wikidata.org/entity/Q38308028
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.Clinical utility of array comparative genomic hybridisation in prenatal setting.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.Extracellular Interactions between Fibulins and Transforming Growth Factor (TGF)-β in Physiological and Pathological Conditions
P2860

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Item
http://www.wikidata.org/entity/Q38308028
description
2014 nî lūn-bûn
@nan
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
2014年论文
@zh
2014年论文
@zh-cn
name
Functional analysis of candida ...... in craniofacial malformations.
@en
type
label
Functional analysis of candida ...... in craniofacial malformations.
@en
prefLabel
Functional analysis of candida ...... in craniofacial malformations.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P921
P356
P1433
P1476
Functional analysis of candida ...... in craniofacial malformations.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P921