R
Rama D. Kastury
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 2
Citations - 15
Rama D. Kastury is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Exome & Neonatal hypoglycemia. The author has an hindex of 1, co-authored 2 publications receiving 8 citations.
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Journal ArticleDOI
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Daniel C. Koboldt,Rama D. Kastury,Megan A. Waldrop,Benjamin J. Kelly,Theresa Mihalic Mosher,Theresa Mihalic Mosher,Heather M. McLaughlin,Don Corsmeier,Jonathan L. Slaughter,Jonathan L. Slaughter,Kevin M. Flanigan,Kevin M. Flanigan,Kim L. McBride,Kim L. McBride,Lakshmi Mehta,Richard K. Wilson,Richard K. Wilson,Peter White,Peter White +18 more
TL;DR: These findings support a broader phenotypic spectrum of BICD2 mutations that may include severe manifestations such as cerebral atrophy, seizures, dysmorphic facial features, and profound muscular atrophy.
Journal ArticleDOI
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?
Jasmine Gujral,Mabel Yau,Amy Yang,Rama D. Kastury,Christopher J. Romero,Elizabeth Wallach,Meredith Wilkes,Gertrude Costin,Robert Rapaport +8 more
TL;DR: Glucocorticoid deficiency from an MC2R mutation associated with GH deficiency is described, consistent with a previously stated hypothesis that physiologic glucocORTicoid levels may be required for optimal GH secretion.