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Penman Splitt, M; Wright, C; Perry, R; Burn, J
Clinical dysmorphology 3, Številka: 4Journal Article
A mother and daughter with Pallister-Hall syndrome are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of this condition. The mother survived childhood and became pregnant without exogenous endocrine supplements, demonstrating that the gene manifests variable expressivity.
