Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
about
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Functional Interplay between Small Non-Coding RNAs and RNA Modification in the Brain.
P2860
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
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2015年學術文章
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name
Two novel mutations in RNU4ATA ...... ic primordial dwarfism type 1.
@en
type
label
Two novel mutations in RNU4ATA ...... ic primordial dwarfism type 1.
@en
prefLabel
Two novel mutations in RNU4ATA ...... ic primordial dwarfism type 1.
@en
P2093
P2860
P50
P921
P1476
Two novel mutations in RNU4ATA ...... tic primordial dwarfism type 1
@en
P2093
Klaus Brusgaard
Lars K Hansen
Louise S Bicknell
P2860
P356
10.1097/MCD.0000000000000110
P577
2016-04-01T00:00:00Z