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Spondylometaphyseal dysplasia, East African type

MedGen UID:
388701
•Concept ID:
C2673686
•
Disease or Syndrome
Synonyms: Spondylometaphyseal Dysplasia, East African Type; Spondylometaphyseal dysplasia, east-African type
 
Monarch Initiative: MONDO:0012713
OMIM®: 611702

Recent clinical studies

Etiology

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

Diagnosis

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

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