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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.
Nancy Braverman is a Pediatrics specialist and a Medical Genetics expert in Baltimore, Maryland. Braverman is rated as an Elite expert by MediFind in the treatment of Acromesomelic Dysplasia Maroteaux Type. She is also highly rated in 21 other conditions, according to our data. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia Maroteaux Type. Braverman is currently accepting new patients.
Andrea Furga-Superti practices in Lausanne, Switzerland. Furga-Superti is rated as an Elite expert by MediFind in the treatment of Acromesomelic Dysplasia Maroteaux Type. She is also highly rated in 61 other conditions, according to our data. Her top areas of expertise are Achondrogenesis, Acromesomelic Dysplasia Maroteaux Type, Acromesomelic Dysplasia Hunter Thompson Type, and Acromesomelic Dysplasia.
Arnold Munnich practices in Paris, France. Munnich is rated as an Elite expert by MediFind in the treatment of Acromesomelic Dysplasia Maroteaux Type. He is also highly rated in 113 other conditions, according to our data. His top areas of expertise are Short Stature (Growth Disorders), Polydactyly, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia, and Heart Transplant.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Summary: This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome...