title: Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
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.
authors.affiliation: Istituto di Clinica Pediatrica, Università di Genova, Italia.
authors.forename: E
authors.initials: E
authors.lastname: Bonioli
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: A
authors.initials: A
authors.lastname: Bertola
authors.forename: C
authors.initials: C
authors.lastname: Bellini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome