Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7521
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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
1468-6244
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.
DOI: 10.1136/jmg.40.4.e50
Published version: http://dx.doi.org/10.1136/jmg.40.4.e50
Appears in Collections:Aurora harvest 5
Paediatrics publications

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