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Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defe...

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Bibliografische gegevens
Hoofdauteurs: Mingarelli, R, Castriota Scanderbeg, A, Dallapiccola, B
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1996
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050774/
https://ncbi.nlm.nih.gov/pubmed/8933348
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