5q11.2 deletion in a patient with tracheal agenesis.

5q11.2 deletion in a patient with tracheal agenesis.

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http://www.wikidata.org/entity/Q41733088
VACTERL/VATER AssociationThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationCav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilageRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature.VACTERL association and mitochondrial dysfunction.VATER/VACTERL Association: Evidence for the Role of Genetic FactorsVACTERL Association Etiology: The Impact of de novo and Rare Copy Number VariationsDe novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.Familial occurrence of the VATER/VACTERL association.A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
P2860

5q11.2 deletion in a patient with tracheal agenesis.

Item
http://www.wikidata.org/entity/Q41733088
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
5q11.2 deletion in a patient with tracheal agenesis.
@en
type
label
5q11.2 deletion in a patient with tracheal agenesis.
@en
prefLabel
5q11.2 deletion in a patient with tracheal agenesis.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
5q11.2 deletion in a patient with tracheal agenesis.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P6179
P698
P932