A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 838-847

  Zweier, Christiane ^a   Kraus, Cornelia ^a   Brueton, Louise ^a   Cole, Trevor ^b   Degenhardt, Franziska ^c   Engels, Hartmut ^c   Gillessen Kaesbach, Gabriele ^d   Graul Neumann, Luitgard ^e   Horn, Denise ^e   Hoyer, Juliane ^a   Just, Walter ^f   Rauch, Anita ^g   Reis, André ^a   Wollnik, Bernd ^h   Zeschnigk, Michael ⁱ   Lüdecke, Hermann Josef ⁱ   Wieczorek, Dagmar ⁱ  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF LÜBECK   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY OF ULM   (Germany)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; PROTEIN PHF6; UNCLASSIFIED DRUG;

ARTICLE; BORJESON FORSSMAN LEHMANN SYNDROME; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINODACTYLY; EXON; FACIES; FEMALE; FIBROBLAST; FRAGILE X SYNDROME; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPERPIGMENTATION; INTELLECTUAL IMPAIRMENT; KARYOTYPING; LYMPHOCYTE; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NAIL DISEASE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCANTY HAIR; SCHOOL CHILD; TOOTH MALFORMATION; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE DISORDER;

CLINICAL GENETICS;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; EPILEPSY; FACE; FEMALE; FINGERS; FOOT; GROWTH DISORDERS; HAND; HUMANS; HYPOGONADISM; MENTAL RETARDATION, X-LINKED; MUTATION; OBESITY; PHENOTYPE; YOUNG ADULT;

EID: 84890143329     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101918     Document Type: Article

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