Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

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Serval ID
serval:BIB_CAF2153A0D59
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
Journal
Journal of Medical Genetics
Author(s)
Faivre  L., Cormier-Daire  V., Lapierre  J. M., Colleaux  L., Jacquemont  S., Genevieve  D., Saunier  P., Munnich  A., Turleau  C., Romana  S., Prieur  M., De Blois  M. C., Vekemans  M.
ISSN
1468-6244
Publication state
Published
Issued date
08/2002
Peer-reviewed
Oui
Volume
39
Number
8
Pages
594-6
Notes
Case Reports
Letter --- Old month value: Aug
Keywords
Adult Basic Helix-Loop-Helix Transcription Factors Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 6/*genetics Diagnosis, Differential Female *Gene Deletion Helix-Loop-Helix Motifs/genetics Humans Male Phenotype Prader-Willi Syndrome/diagnosis/*genetics Repressor Proteins/*genetics
DOI
10.1136/jmg.39.8.594
Pubmed
12161602
Web of science
000177458700011
Open Access
Yes
Create date
28/02/2008 11:42
Last modification date
20/08/2019 16:45
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