Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
about
Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos.Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.Copy number variation plays an important role in clinical epilepsy.A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family.Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).Cytogenetic and molecular characterization of two isodicentric Y chromosomes.An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
P2860
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P2860
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@en
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@nl
type
label
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@en
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@nl
prefLabel
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@en
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@nl
P2093
P2860
P1476
Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.
@en
P2093
Rauterberg-Ruland I
Schiller S
Spranger S
Tariverdian G
P2860
P304
P356
10.1002/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K
P577
1999-04-01T00:00:00Z