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Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome
E Bonioli1, A Palmieri, A Bertola
1Istituto di Clinica Pediatrica, Università di Genova, Italia.
Abstract:
Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.