X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.
about
Renpenning syndrome maps to Xp11.Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.XLMR genes: update 1996.Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.The impact of spermine synthase (SMS) mutations on brain morphology.A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine.A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.Snyder-Robinson syndrome
P2860
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P2860
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@ast
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@en
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@nl
type
label
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@ast
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@en
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@nl
prefLabel
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@ast
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@en
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@nl
P2093
P1476
X-linked mental retardation wi ...... sis: linkage to Xp21.3-p22.12.
@en
P2093
Schwartz C
Stevenson R
P356
10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V
P577
1996-07-01T00:00:00Z