机译:A variant of Fine-Lubinsky syndromecolon; a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis
机译:Concordance as well as discordance for congenital malformations in valproate-exposed half-siblings with parental consanguinity may indicate a specific gene-teratogen interaction
机译:Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysiscolon; a new autosomal recessive syndrome?