| Autor: |
M, Lagerström-Fermér, M, Sundvall, E, Johnsen, G L, Warne, S M, Forrest, J D, Zajac, A, Rickards, D, Ravine, U, Landegren, U, Pettersson |
| Rok vydání: |
1997 |
| Předmět: |
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| Zdroj: |
American journal of human genetics. 60(4) |
| ISSN: |
0002-9297 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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