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X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics.
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1997 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 60, no 4, 910-916 p.Article in journal (Refereed) Published
Abstract [en]

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.

Place, publisher, year, edition, pages
1997. Vol. 60, no 4, 910-916 p.
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Basic Medicine
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URN: urn:nbn:se:uu:diva-51918PubMedID: 9106538OAI: oai:DiVA.org:uu-51918DiVA: diva2:79827
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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PubMedhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1712462/

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Landegren, UlfPettersson, Ulf

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