Articles with "gazali skeletal" as a keyword



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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

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Published in 2023 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4799

Abstract: Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al‐Gazali skeletal dysplasia has up… read more here.

Keywords: skeletal dysplasia; dysplasia; related disorders; gazali skeletal ... See more keywords