Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Details
Serval ID
serval:BIB_8D2174FCED45
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
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Journal
Clinical Genetics
ISSN
0009-9163 (Print)
ISSN-L
0009-9163
Publication state
Published
Issued date
2006
Volume
69
Number
5
Pages
441-443
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Keywords
Adult, Base Sequence, Chromosome Deletion, Chromosomes, Human, Pair 2, Growth Hormone/deficiency, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Kruppel-Like Transcription Factors/genetics, Male, Nuclear Proteins/genetics, Polydactyly/diagnosis, Polydactyly/genetics, Protein C/genetics, Sequence Deletion, Urogenital Abnormalities/diagnosis, Urogenital Abnormalities/genetics, Venous Thrombosis/diagnosis, Venous Thrombosis/genetics
Pubmed
Web of science
Create date
17/09/2011 10:26
Last modification date
20/08/2019 15:51
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