Article
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.
American journal of human genetics - 1 Apr 1997
Lagerström-Fermér M, Sundvall M, Johnsen E, Warne G L, Forrest S M, Zajac J D, Rickards A, Ravine D, Landegren U, Pettersson U
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
