DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
about
Dishevelled Paralogs in Vertebrate Development: Redundant or Distinct?Clinical genomics: from a truly personal genome viewpoint.Planar cell polarity in development and disease.Molecular genetics and targeted therapy of WNT-related human diseases (Review).De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.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.A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Wnt-induced Vangl2 phosphorylation is dose-dependently required for planar cell polarity in mammalian development.Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.Robinow syndrome: a diagnosis at the fingertips
P2860
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P2860
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@ast
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@en
type
label
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@ast
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@en
prefLabel
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@ast
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@en
P2093
P2860
P1476
DVL3 Alleles Resulting in a -1 ...... omal-Dominant Robinow Syndrome
@en
P2093
Alper Gezdirici
Baylor-Hopkins Center for Mendelian Genomics
Bregje W M van Bon
Claudia M B Carvalho
Donna M Muzny
Han G Brunner
James R Lupski
Juliana F Mazzeu
Marjorie Withers
Marloes Steehouwer
P2860
P304
P356
10.1016/J.AJHG.2016.01.005
P407
P577
2016-02-24T00:00:00Z