Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
about
A simple strategy for heritable chromosomal deletions in zebrafish via the combinatorial action of targeting nucleasesThe RNA helicase RHAU (DHX36) suppresses expression of the transcription factor PITX1.Biophysical Characterization of G-Quadruplex Recognition in the PITX1 mRNA by the Specificity Domain of the Helicase RHAU.Polydactyly: phenotypes, genetics and classification.Advances in the molecular genetics of non-syndromic polydactyly.Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.Reconstruction of Mirror Foot with Dysplastic Tibia.The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Disentangling Timing of Admixture, Patterns of Introgression, and Phenotypic Indicators in a Hybridizing Wolf Population.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomeliaA chromosomal 5q31.1 gain involvingPITX1causes Liebenberg syndromeClinical Genetics of Polydactyly: An Updated Review
P2860
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P2860
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@ast
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@en
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@nl
type
label
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@ast
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@en
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@nl
prefLabel
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@ast
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@en
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@nl
P2093
P2860
P50
P356
P1476
Deletions in PITX1 cause a spe ...... uding mirror-image polydactyly
@en
P2093
Benjamin Joseph
Christian Kähler
Hermann Vogel
Karsten Held
Nicola Foulds
Rainer Bald
Regina Besoke
Sabine Lüttgen
P2860
P2888
P356
10.1038/EJHG.2011.264
P407
P577
2012-06-01T00:00:00Z
P5875
P6179
1001572339