Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.
about
Renpenning syndrome maps to Xp11.X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysisThe Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.Splitting and lumping in the nosology of XLMR.Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.ZC4H2 deletions can cause severe phenotype in female carriers.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
P2860
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P2860
Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@en
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@nl
type
label
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@en
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@nl
prefLabel
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@en
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@nl
P356
P1476
Unique X-linked mental retarda ...... ontractures linked to Xq21.31.
@en
P2093
Carpenter NJ
P304
P356
10.1002/AJMG.1320380209
P577
1991-02-01T00:00:00Z