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.

Détails

ID Serval
serval:BIB_8D2174FCED45
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
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.
Périodique
Clinical Genetics
Auteur(s)
Gustavsson P., Schoumans J., Staaf J., Jönsson G., Carlsson F., Kristoffersson U., Borg A., Nordenskjöld M., Dahl N.
ISSN
0009-9163 (Print)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
2006
Volume
69
Numéro
5
Pages
441-443
Langue
anglais
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Mots-clé
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
Création de la notice
17/09/2011 10:26
Dernière modification de la notice
03/03/2018 19:15
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