Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Item
http://www.wikidata.org/entity/Q24655837
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesA novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
P2860

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Item
http://www.wikidata.org/entity/Q24655837
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին 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
Mutation screening in Borjeson ...... 6 mutation in a female patient
@ast
Mutation screening in Borjeson ...... 6 mutation in a female patient
@en
Mutation screening in Borjeson ...... 6 mutation in a female patient
@nl
type
label
Mutation screening in Borjeson ...... 6 mutation in a female patient
@ast
Mutation screening in Borjeson ...... 6 mutation in a female patient
@en
Mutation screening in Borjeson ...... 6 mutation in a female patient
@nl
prefLabel
Mutation screening in Borjeson ...... 6 mutation in a female patient
@ast
Mutation screening in Borjeson ...... 6 mutation in a female patient
@en
Mutation screening in Borjeson ...... 6 mutation in a female patient
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Mutation screening in Borjeson ...... 6 mutation in a female patient
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932