Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

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http://www.wikidata.org/entity/Q35589023
Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow SyndromePlanar cell polarity in development and disease.Genetics of Short Stature.De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.A genetic signature of the evolution of loss of flight in the Galapagos cormorant.Kinesin superfamily protein Kif26b links Wnt5a-Ror signaling to the control of cell and tissue behaviors in vertebrates.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.Genetic analysis of very obese children with autism spectrum disorder.Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
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Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Item
http://www.wikidata.org/entity/Q35589023
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@ast
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@en
type
label
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@ast
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@en
prefLabel
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@ast
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
@en
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Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2015.02.010
P407
P433
P478
P50
P577
P5875
P698
P932