Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome (Q34157672)

31 July 2017

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome (English)

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Karen M Lower

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Markus Grompe

object named as

Markus Grompe

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Katherine Mathews

object named as

Katherine D Mathews

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Martin Delatycki

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object named as

Martin B Delatycki

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Bert B A de Vries

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Gillian Turner

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Bronwyn A Kerr

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Marie A Shaw

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Agi K Gedeon

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Susan Schelley

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H Eugene Hoyme

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Susan M White

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Anne K Lampe

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Jill Clayton-Smith

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Helen Stewart

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Conny M A van Ravenswaay

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Barbara Cox

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Shelley Ross

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Paul Thomas

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John C Mulley

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language of work or name

English

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publication date

4 November 2002

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661-665

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https://scigraph.springernature.com/pub.10.1038/ng1040

31 July 2017

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Linkage localization of Börjeson-Forssman-Lehmann syndrome.

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

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

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A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

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The leukemia-associated-protein (LAP) domain, a cysteine-rich motif, is present in a wide range of proteins, including MLL, AF10, and MLLT6 proteins

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Three yeast proteins related to the human candidate tumor suppressor p33(ING1) are associated with histone acetyltransferase activities.

21 January 2018

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Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

21 January 2018

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Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome

21 January 2018

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7 January 2021

Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

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7 January 2021

Splitting and lumping in the nosology of XLMR.

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7 January 2021

The PHD finger: implications for chromatin-mediated transcriptional regulation

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7 January 2021

Identification of two novel zinc finger modules and nuclear localization signal in rat spermatidal protein TP2 by site-directed mutagenesis

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7 January 2021

Nucleoporins nup98 and nup214 participate in nuclear export of human immunodeficiency virus type 1 Rev

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7 January 2021

Identifiers

DOI

10.1038/NG1040

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31 July 2017

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