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Jeune syndrome - GRK2-related

MONDO:0100583

A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene.

Also known as: GRK2-related Jeune syndrome, asphyxiating thoracic dystrophy - GRK2-related, short rib polydactyly - GRK2 related, short rib thoracic dystrophy - GRK2 related

53 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Kidney disorder (202) Musculoskeletal system disorder (196) Hereditary disease (172) Respiratory system disorder (127) Urinary system disorder (62) Bone disorder (47) Syndromic disease (24) Human disease (14) Skeletal system disorder (4)

Trials to join now! 24 Not yet recruiting 10 Not yet finished but already full! 8 Completed 10 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC