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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
The Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (commonly shortened to just The James) is part of The Ohio State University Wexner Medical Center and is one of the National Cancer Institute's Comprehensive Cancer Centers. [3] It is named after Arthur G. James, the founder, who desired a cancer hospital in Columbus ...
OhioHealth Riverside Methodist Hospital. / 40.031306; -83.036138. OhioHealth Riverside Methodist Hospital is the largest member hospital of OhioHealth, a not-for-profit, faith-based healthcare system located in Columbus, Ohio . As a regional tertiary care hospital, Riverside Methodist is host to a number of specialty centers and services ...
Website. www .sarepta .com. Sarepta Therapeutics, Inc. ( Nasdaq : SRPT) is a medical research and drug development company with corporate offices and research facilities in Cambridge, Massachusetts, United States. Incorporated in 1980 as AntiVirals, [1] shortly before going public the company changed its name from AntiVirals to AVI BioPharma ...
Specialty. Hematology. X-linked severe combined immunodeficiency ( X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells . In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...
A healthy cell nucleus (right, top) and a progeric cell nucleus (right, bottom). Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). [8] A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A ( LMNA ), makes a ...
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
Michael A. Caligiuri is an American physician scientist focused on oncology and immunology. He is currently the president of the City of Hope National Medical Center and the Deana and Steve Campbell Physician-in-Chief Distinguished Chair. [3] He was elected president of the American Association for Cancer Research, the world's largest cancer ...
OhioHealth Doctors Hospital. / 39.95255111°N 83.13792694°W / 39.95255111; -83.13792694. OhioHealth Doctors Hospital is a 213-bed tertiary care teaching hospital located in Columbus in the U.S. state of Ohio. Doctors Hospital operates the second largest osteopathic medical training program in the United States.
1 in 40,000 newborns [1] Leber congenital amaurosis ( LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [2] It affects about 1 in 40,000 newborns. [1] LCA was first described by Theodor Leber in the 19th century. [3] [4] It should not be confused with Leber's hereditary optic neuropathy, which is a ...