Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
about
The puzzle of TRPV4 channelopathies.TRPV4-associated skeletal dysplasias.Phenotypic variability of TRPV4 related neuropathies.Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
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Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
description
im September 2011 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2011
@uk
name
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@en
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@nl
type
label
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@en
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@nl
prefLabel
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@en
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@nl
P2093
P2860
P50
P356
P1476
Fetal akinesia in metatropic d ...... ondrodysplasia and neuropathy?
@en
P2093
Andrea Superti-Furga
Bernhard Zabel
Cristina Maria Di Stefano
Ekkehart Lausch
Franco Stanzial
Gabriele Gillessen-Kaesbach
Sheila Unger
P2860
P304
P356
10.1002/AJMG.A.34268
P407
P577
2011-09-30T00:00:00Z