Brachydactyly Mononen Type Overview
Learn About Brachydactyly Mononen Type
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Simon Carlo is a Medical Genetics provider in Santurce, Puerto Rico. Dr. Carlo and is rated as an Experienced provider by MediFind in the treatment of Brachydactyly Mononen Type. His top areas of expertise are Hypotonia, Spondylocostal Dysostosis, Oculocutaneous Albinism Type 2, and Hermansky-Pudlak Syndrome.
Vd Allergy Institute LLC
Veronica Diaz-Vidal is an Allergy and Immunologist and a Pediatrics provider in San Juan, Puerto Rico. Dr. Diaz-Vidal and is rated as an Experienced provider by MediFind in the treatment of Brachydactyly Mononen Type. Her top areas of expertise are Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome) and Brachydactyly Mononen Type. Dr. Diaz-Vidal is currently accepting new patients.
Zhixing Li practices in Shanghai, Puerto Rico. Li and is rated as an Experienced expert by MediFind in the treatment of Brachydactyly Mononen Type. Their top areas of expertise are X-Linked Spondyloepiphyseal Dysplasia Tarda, Schwartz-Jampel Syndrome, Chondrodystrophy, and Brachydactyly Mononen Type.
Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Summary: The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.