000 01830 a2200541 4500
005 20250515075509.0
264 0 _c20070921
008 200709s 0 0 eng d
022 _a0002-9297
024 7 _a10.1086/519999
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBoland, Elena
245 0 0 _aMapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cAug 2007
300 _a292-303 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAgenesis of Corpus Callosum
650 0 4 _aAnimals
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Breakage
650 0 4 _aChromosome Deletion
650 0 4 _aChromosome Mapping
650 0 4 _aChromosomes, Human, Pair 1
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMice
650 0 4 _aMicrocephaly
_xgenetics
650 0 4 _aProto-Oncogene Proteins c-akt
_xgenetics
650 0 4 _aTranslocation, Genetic
700 1 _aClayton-Smith, Jill
700 1 _aWoo, Victoria G
700 1 _aMcKee, Shane
700 1 _aManson, Forbes D C
700 1 _aMedne, Livija
700 1 _aZackai, Elaine
700 1 _aSwanson, Eric A
700 1 _aFitzpatrick, David
700 1 _aMillen, Kathleen J
700 1 _aSherr, Elliott H
700 1 _aDobyns, William B
700 1 _aBlack, Graeme C M
773 0 _tAmerican journal of human genetics
_gvol. 81
_gno. 2
_gp. 292-303
856 4 0 _uhttps://doi.org/10.1086/519999
_zAvailable from publisher's website
999 _c17201208
_d17201208