Publication | Closed Access
The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case
11
Citations
9
References
1984
Year
Phenotype IntermediateGeneticsGenetic EpidemiologyMolecular GeneticsOrthopaedic SurgeryMendelian DisorderSurgical PathologyAbnormal DevelopmentNeuropathologyNeurogeneticsDown SyndromeSkeletal BiologyCofs SyndromesNeuromuscular PathologyDevelopmental AnomalyDevelopmental BiologyGenetic DisorderNewborn FemaleMedicineCraniofacial DisorderConnective Tissue Disease
A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described. The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.
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