Learn About Acromesomelic Dysplasia Maroteaux Type

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What are the Latest Advances for Acromesomelic Dysplasia Maroteaux Type?
Hinge positioning method of Ilizarov apparatus in correcting radial head luxation caused by multiple hereditary exostoses.
Modified osteotomy for treatment of forearm deformities (Masada IIb) in hereditary multiple osteochondromas: a retrospective review.
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What are the latest Acromesomelic Dysplasia Maroteaux Type Clinical Trials?
Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study

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-...

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Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders

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...