Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
about
Epigenetic principles and mechanisms underlying nervous system functions in health and diseaseThe Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cellsExonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
P2860
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@en
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@nl
type
label
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@en
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@nl
prefLabel
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@en
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
@nl
P2093
P50
P1433
P1476
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation
@en
P2093
Guarnaccia V
Spalletta A
P304
P356
10.1111/J.1399-0004.2005.00436.X
P577
2005-05-01T00:00:00Z