Associated Papers
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM et al.
Plos Genetics, 2024
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R et al.
Human Molecular Genetics, 2021
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
McRae HM et al.
Development (cambridge, England), 2020
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Zhang X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2019
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Todd MA et al.
Genes, 2015
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z et al.
The Journal of Biological Chemistry, 2014
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C et al.
Journal of Medical Genetics, 2013
Mapping an X-linked locus that influences heat-induced febrile seizures in mice.
Hessel EV et al.
Epilepsia, 2012
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.
Berland S et al.
Molecular Syndromology, 2011
Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.
de Winter CF et al.
Journal of Intellectual Disability Research : Jidr, 2009
Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
Carter MT et al.
American Journal of Medical Genetics. Part A, 2009
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
Gécz J et al.
European Journal of Human Genetics : Ejhg, 2006
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Moog U et al.
Journal of Medical Genetics, 2005
A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
Vallée D et al.
Journal of Medical Genetics, 2004
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.
Birrell G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2003
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
Baumstark A et al.
Journal of Medical Genetics, 2003