Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

Item
http://www.wikidata.org/entity/Q52061708
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouseLocalisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesCharacterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.Linkage mapping of a severe X-linked mental retardation syndrome.Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.Forty years from markers to genes.Fine structure mapping of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene region of the human X chromosome (Xq26).The recognition and investigation of X-linked learning disability syndromes.X-linked mental retardation: in pursuit of a gene map.1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
P2860

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

Item
http://www.wikidata.org/entity/Q52061708
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@en
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@nl
type
label
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@en
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@nl
prefLabel
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@en
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Börjeson-Forssman-Lehmann synd ...... gene localization to Xq26-27.
@en
P2093
P304
P31
P356
P433
P478
P577
P698