The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

Item
http://www.wikidata.org/entity/Q34570066
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityT-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing eventsPleiotropic genetic syndromes with developmental abnormalities associated with obesity.Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.Somatic mutations of PHF6 in patients with chronic myeloid leukemia in blast crisis.Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma.1H, 13C and 15N resonance assignments and secondary structure of the human PHF6-ePHD1 domain.Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?
P2860

The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).

Item
http://www.wikidata.org/entity/Q34570066
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@ast
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@en
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@nl
type
label
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@ast
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@en
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@nl
prefLabel
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@ast
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@en
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698