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Brachymesomelia-renal syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Langer Nishino Yamaguchi syndrome; Severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities
Monarch Initiative: MONDO:0007228
OMIM®: 113470

Recent clinical studies


Bernstein J
Pediatr Nephrol 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576. PMID: 8398663

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