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Autosomal dominant microcephaly with mental retardation
dc.contributor.authorBawle, Erawati V.en_US
dc.contributor.authorHorton, M.en_US
dc.date.accessioned2006-04-28T16:48:13Z
dc.date.available2006-04-28T16:48:13Z
dc.date.issued1989-07en_US
dc.identifier.citationBawle, E.; Horton, M. (1989)."Autosomal dominant microcephaly with mental retardation." American Journal of Medical Genetics 33(3): 382-384. <http://hdl.handle.net/2027.42/38250>en_US
dc.identifier.issn0148-7299en_US
dc.identifier.issn1096-8628en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/38250
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2801773&dopt=citationen_US
dc.description.abstractA 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a “beaked” nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.en_US
dc.format.extent353100 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherGeneticsen_US
dc.titleAutosomal dominant microcephaly with mental retardationen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationotherDepartment of Pediatrics, Wayne State University and Division of Genetic, Metabolic, and Developmental Disorders, Children's Hospital of Michigan, Detroit ; Genetic, Metabolic, and Developmental Disorders, Children's Hospital of Michigan, 3901 Beaubien, Detroit, MI 48201en_US
dc.contributor.affiliationotherDepartment of Pediatric Emergency, Henry Ford Hospital, Detroiten_US
dc.identifier.pmid2801773en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/38250/1/1320330318_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ajmg.1320330318en_US
dc.identifier.sourceAmerican Journal of Medical Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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