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Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11.

AuthorsE Hatchwell
JournalThe Journal of pediatrics (J Pediatr) Vol. 131 Issue 1 Pt 1 Pg. 164-5 (Jul 1997) ISSN: 0022-3476 [Print] United States
PMID9255212 (Publication Type: Letter)
Chemical References
  • Extracellular Matrix Proteins
  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
Topics
  • Chromosomes, Human, Pair 22 (genetics)
  • Craniofacial Abnormalities (genetics)
  • Craniosynostoses (genetics)
  • Diagnosis, Differential
  • Extracellular Matrix Proteins (genetics)
  • Fibrillin-1
  • Fibrillins
  • Heart Defects, Congenital (genetics)
  • Humans
  • Marfan Syndrome (genetics)
  • Microfilament Proteins (genetics)
  • Monosomy (genetics)
  • Mutation (genetics)
  • Phenotype
  • Syndrome

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