Clinical Dysmorphology 2008-Jul
A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
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Kľúčové slová
Abstrakt
Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected.
