000 02121 a2200637 4500
005 20250515104342.0
264 0 _c20080422
008 200804s 0 0 eng d
022 _a1432-1203
024 7 _a10.1007/s00439-008-0467-y
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aJalali, Ali
245 0 0 _aLinkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
_h[electronic resource]
260 _bHuman genetics
_cApr 2008
300 _a237-45 p.
_bdigital
500 _aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, N.I.H., Extramural
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 2
_xgenetics
650 0 4 _aDandy-Walker Syndrome
_xcomplications
650 0 4 _aEncephalocele
_xcomplications
650 0 4 _aFemale
650 0 4 _aGenes, Dominant
650 0 4 _aGenetic Heterogeneity
650 0 4 _aGenetic Linkage
_xgenetics
650 0 4 _aGenome, Human
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aMale
650 0 4 _aNucleic Acid Hybridization
650 0 4 _aOccipital Bone
_xabnormalities
650 0 4 _aPedigree
650 0 4 _aPolymorphism, Single Nucleotide
_xgenetics
700 1 _aAldinger, Kimberly A
700 1 _aChary, Ajit
700 1 _aMcLone, David G
700 1 _aBowman, Robin M
700 1 _aLe, Luan Cong
700 1 _aJardine, Phillip
700 1 _aNewbury-Ecob, Ruth
700 1 _aMallick, Andrew
700 1 _aJafari, Nadereh
700 1 _aRussell, Eric J
700 1 _aCurran, John
700 1 _aNguyen, Pam
700 1 _aOuahchi, Karim
700 1 _aLee, Charles
700 1 _aDobyns, William B
700 1 _aMillen, Kathleen J
700 1 _aPina-Neto, Joao M
700 1 _aKessler, John A
700 1 _aBassuk, Alexander G
773 0 _tHuman genetics
_gvol. 123
_gno. 3
_gp. 237-45
856 4 0 _uhttps://doi.org/10.1007/s00439-008-0467-y
_zAvailable from publisher's website
999 _c17712755
_d17712755