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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.
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2006 (English)In: Clin Genet, ISSN 0009-9163, Vol. 69, no 5, 441-3 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2006. Vol. 69, no 5, 441-3 p.
Keyword [en]
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/*genetics, Protein C/*genetics, Sequence Deletion, Urogenital Abnormalities/diagnosis/*genetics, Venous Thrombosis/diagnosis/*genetics
URN: urn:nbn:se:uu:diva-16744PubMedID: 16650085OAI: oai:DiVA.org:uu-16744DiVA: diva2:44515
Available from: 2008-06-03 Created: 2008-06-03 Last updated: 2011-01-11

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Dahl, Niklas
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