000 02003 a2200601 4500
005 20250516151421.0
264 0 _c20140102
008 201401s 0 0 eng d
022 _a1750-1172
024 7 _a10.1186/1750-1172-8-75
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFerraris, Alessandro
245 0 0 _aDandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
_h[electronic resource]
260 _bOrphanet journal of rare diseases
_cMay 2013
300 _a75 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 3
_xgenetics
650 0 4 _aDandy-Walker Syndrome
_xgenetics
650 0 4 _aFace
_xabnormalities
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aHumans
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
_xgenetics
650 0 4 _aTranscription Factors
_xgenetics
650 0 4 _aWisconsin
650 0 4 _aYoung Adult
650 0 4 _aZinc Fingers
_xgenetics
700 1 _aBernardini, Laura
700 1 _aSabolic Avramovska, Vesna
700 1 _aZanni, Ginevra
700 1 _aLoddo, Sara
700 1 _aSukarova-Angelovska, Elena
700 1 _aParisi, Valentina
700 1 _aCapalbo, Anna
700 1 _aTumini, Stefano
700 1 _aTravaglini, Lorena
700 1 _aMancini, Francesca
700 1 _aDuma, Filip
700 1 _aBarresi, Sabina
700 1 _aNovelli, Antonio
700 1 _aMercuri, Eugenio
700 1 _aTarani, Luigi
700 1 _aBertini, Enrico
700 1 _aDallapiccola, Bruno
700 1 _aValente, Enza Maria
773 0 _tOrphanet journal of rare diseases
_gvol. 8
_gp. 75
856 4 0 _uhttps://doi.org/10.1186/1750-1172-8-75
_zAvailable from publisher's website
999 _c22756972
_d22756972