The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
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Seizures and X-linked intellectual disabilityMutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientStructural Basis of Plant Homeodomain Finger 6 (PHF6) Recognition by the Retinoblastoma Binding Protein 4 (RBBP4) Component of the Nucleosome Remodeling and Deacetylase (NuRD) ComplexDissecting the expression landscape of RNA-binding proteins in human cancersPHF6 mutations in T-cell acute lymphoblastic leukemiaThe 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.Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian lociFamilial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionThe Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.PHF6 regulates cell cycle progression by suppressing ribosomal RNA synthesisThe X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain.PHF6 mutations in adult acute myeloid leukemia.Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.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.
P2860
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P2860
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
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2004 թվականի մարտին հրատարակված գիտական հոդված
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2004年の論文
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name
The clinical picture of the Bö ...... s females with PHF6 mutations.
@ast
The clinical picture of the Bö ...... s females with PHF6 mutations.
@en
The clinical picture of the Bö ...... s females with PHF6 mutations.
@nl
type
label
The clinical picture of the Bö ...... s females with PHF6 mutations.
@ast
The clinical picture of the Bö ...... s females with PHF6 mutations.
@en
The clinical picture of the Bö ...... s females with PHF6 mutations.
@nl
prefLabel
The clinical picture of the Bö ...... s females with PHF6 mutations.
@ast
The clinical picture of the Bö ...... s females with PHF6 mutations.
@en
The clinical picture of the Bö ...... s females with PHF6 mutations.
@nl
P2093
P50
P1433
P1476
The clinical picture of the Bö ...... us females with PHF6 mutations
@en
P2093
B B A De Vries
J Clayton Smith
M Delatycki
M Partington
S Schelley
P304
P356
10.1111/J.0009-9163.2004.00215.X
P577
2004-03-01T00:00:00Z