H
Herschel L. Estep
Researcher at Eastern Virginia Medical School
Publications - 2
Citations - 574
Herschel L. Estep is an academic researcher from Eastern Virginia Medical School. The author has contributed to research in topics: Calcium-sensing receptor & Mutant. The author has an hindex of 2, co-authored 2 publications receiving 562 citations.
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Journal ArticleDOI
Autosomal dominant hypocalcaemia caused by a Ca 2+ -sensing receptor gene mutation
Martin R. Pollak,Edward M. Brown,Herschel L. Estep,Peter N. McLaine,Olga Kifor,Ji Park,Steven C. Hebert,Christine E. Seidman,Jonathan G. Seidman +8 more
TL;DR: It is demonstrated that a missense mutation (Glu128Ala) in this gene causes familial hypocalcaemia in affected members of one family, and this extracellular domain mutation increases the receptor's activity at low Ca2+ concentrations, causing hypocalcemia in patients heterozygous for such a mutation.
Journal ArticleDOI
Reversible avascular necrosis of the femoral head in tumor-induced osteomalacia.
TL;DR: In this paper, the course and reversal of avascular necrosis of femoral heads (ANFH) in a 27-year-old woman with tumor-induced osteomalacia (TIO) was documented.