RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Item
http://www.wikidata.org/entity/Q40273248
Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.Discovery of mutations for Mendelian disorders.Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.The evolution of cortical development: the synapsid-diapsid divergence.Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN
P2860

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Item
http://www.wikidata.org/entity/Q40273248
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
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
@en
type
label
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
@en
prefLabel
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2015.10.012
P407
P433
P478
P50
P577
P5875
P698
P921
P932