Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
Albright hereditary osteodystrophy (AHO) results from heterozygous inactivation of G(s)alpha, encoded by the GNAS1 locus on the distal long arm of chromosome 20. This autosomal dominant condition is characterized by short stature, obesity, shortening of the metacarpals and metatarsals, and variable...
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | Journal article |
| اللغة: | English |
| منشور في: |
2002
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