Breakpoints around the HOXD cluster result in various limb malformations.
about
A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries).Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentReconstructing the DNA Methylation Maps of the Neandertal and the DenisovanPolymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families.Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.cis-regulatory mutations are a genetic cause of human limb malformationsDuplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.The evolutionarily conserved gene LNP-1 is required for synaptic vesicle trafficking and synaptic transmission.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
P2860
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P2860
Breakpoints around the HOXD cluster result in various limb malformations.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Breakpoints around the HOXD cluster result in various limb malformations.
@en
type
label
Breakpoints around the HOXD cluster result in various limb malformations.
@en
prefLabel
Breakpoints around the HOXD cluster result in various limb malformations.
@en
P2093
P2860
P50
P356
P1476
Breakpoints around the HOXD cluster result in various limb malformations
@en
P2093
B Dlugaszewska
H-H Ropers
U Friedrich
P2860
P304
P356
10.1136/JMG.2005.033555
P407
P577
2005-06-24T00:00:00Z