X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
| العنوان: | X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26 |
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| المؤلفون: | Lagerström-Fermér, Maria, Sundvall, Mats, Johnsen, Elsy, Warne, GL, Forrest, SM, Zajac, JD, Richards, A, Ravine, D, Landegren, Ulf, Pettersson, Ulf |
| المصدر: | American Journal of Human Genetics. 60(4):910-916 |
| الوصف: | 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. |
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| URL الوصول: | https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-51918 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1712462/ |
| قاعدة البيانات: | SwePub |
| تدمد: | 00029297 15376605 |
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