Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
about
X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Infantile hydrocephalus: a review of epidemiology, classification and causes.AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
P2860
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
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1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
@ast
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
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type
label
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
@ast
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
@en
prefLabel
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
@ast
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
@en
P2860
P356
P1476
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22
@en
P2093
P2860
P304
P356
10.1136/JMG.34.7.535
P407
P577
1997-07-01T00:00:00Z