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Type: Journal article
Title: Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Author: Baumstark, A.
Lower, K.
Sinkus, A.
Andriuskeveviciute, I.
Jurkeniene, L.
Gecz, J.
Just, W.
Citation: Journal of Medical Genetics, 2003; 40(4):1-6
Publisher: British Med Journal Publ Group
Issue Date: 2003
ISSN: 0022-2593
Keywords: Ear; Chromosomes, Human, X; Humans; Seizures; Abnormalities, Multiple; Gynecomastia; Obesity; Hypogonadism; Syndrome; Genetic Predisposition to Disease; DNA; Pedigree; DNA Mutational Analysis; Sequence Deletion; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Molecular Sequence Data; Family Health; Female; Male; Genetic Linkage; Intellectual Disability
Description: Copyright © 2003 by the BMJ Publishing Group Ltd.
RMID: 0020030252
DOI: 10.1136/jmg.40.4.e50
Appears in Collections:Paediatrics publications

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