000 01968 a2200577 4500
005 20250514230415.0
264 0 _c20051027
008 200510s 0 0 eng d
022 _a1018-4813
024 7 _a10.1038/sj.ejhg.5201448
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGeneviève, David
245 0 0 _aPaternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cSep 2005
300 _a1033-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdult
650 0 4 _aChromosome Deletion
650 0 4 _aChromosome Mapping
650 0 4 _aChromosomes, Human, Pair 20
650 0 4 _aCytogenetic Analysis
_xmethods
650 0 4 _aFace
_xabnormalities
650 0 4 _aFathers
650 0 4 _aFeeding Behavior
650 0 4 _aFemale
650 0 4 _aGenomic Imprinting
_xgenetics
650 0 4 _aGrowth Disorders
_xgenetics
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aPregnancy
700 1 _aSanlaville, Damien
700 1 _aFaivre, Laurence
700 1 _aKottler, Marie-Laure
700 1 _aJambou, Marguerite
700 1 _aGosset, Philippe
700 1 _aBoustani-Samara, Dinane
700 1 _aPinto, Graziella
700 1 _aOzilou, Catherine
700 1 _aAbeguilé, Geneviève
700 1 _aMunnich, Arnold
700 1 _aRomana, Serge
700 1 _aRaoul, Odile
700 1 _aCormier-Daire, Valérie
700 1 _aVekemans, Michel
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 13
_gno. 9
_gp. 1033-9
856 4 0 _uhttps://doi.org/10.1038/sj.ejhg.5201448
_zAvailable from publisher's website
999 _c15576770
_d15576770