Novel X-linked mental retardation syndrome with short stature maps to Xq24.
about
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityVariants in CUL4B are associated with cerebral malformationsHuman teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.Genetics of population isolates.Ocular manifestations in the X-linked intellectual disability syndromes.Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees
P2860
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@en
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@nl
type
label
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@en
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@nl
prefLabel
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@en
Novel X-linked mental retardation syndrome with short stature maps to Xq24.
@nl
P2093
P2860
P356
P1476
Novel X-linked mental retardation syndrome with short stature maps to Xq24
@en
P2093
C Mastropaolo
C Specchia
D Paglietti
P2860
P356
10.1002/AJMG.1495
P577
2001-09-01T00:00:00Z