A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.
Details
Serval ID
serval:BIB_D7C8CEA018A1
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
Title
A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.
Journal
Journal of the European Academy of Dermatology and Venereology : Jeadv
ISSN
1468-3083 (Electronic)
ISSN-L
0926-9959
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
24
Number
5
Pages
612-614
Language
english
Notes
Publication types: Case Reports ; Letter Publication Status: ppublish
Keywords
Abnormalities, Multiple/genetics, Adolescent, Exons, Fingers/abnormalities, Hair Diseases/genetics, Humans, Male, Mutation, Missense, Nose/abnormalities, Syndrome
Pubmed
Web of science
Create date
20/06/2015 12:07
Last modification date
20/08/2019 15:57
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