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Undermodeled humerus

MedGen UID:
871064
•Concept ID:
C4025529
•
Anatomical Abnormality
HPO: HP:0003885

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUndermodeled humerus

Recent clinical studies

Diagnosis

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A
Am J Med Genet A 2018 Mar;176(3):739-742. Epub 2018 Jan 31 doi: 10.1002/ajmg.a.38623. PMID: 29383834
Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility.
Nakamura K, Nakada Y, Nakada D
Am J Med Genet 1998 Apr 13;76(5):389-94. PMID: 9556297
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM
Am J Med Genet 1984 Apr;17(4):809-26. doi: 10.1002/ajmg.1320170411. PMID: 6720746

Supplemental Content

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