000 01662 a2200469 4500
005 20250516024230.0
264 0 _c20110928
008 201109s 0 0 eng d
022 _a1878-0849
024 7 _a10.1016/j.ejmg.2011.02.002
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aBusche, Andreas
245 0 0 _aMicrodeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.
_h[electronic resource]
260 _bEuropean journal of medical genetics
_c
300 _a256-61 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 7
_xgenetics
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aFace
_xabnormalities
650 0 4 _aFemale
650 0 4 _aGrowth Disorders
_xpathology
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aKaryotyping
650 0 4 _aMale
650 0 4 _aMicrocephaly
_xpathology
650 0 4 _aNuclear Proteins
_xgenetics
650 0 4 _aSyndrome
650 0 4 _aTwist-Related Protein 1
_xgenetics
700 1 _aGraul-Neumann, Luitgard M
700 1 _aZweier, Christiane
700 1 _aRauch, Anita
700 1 _aKlopocki, Eva
700 1 _aHorn, Denise
773 0 _tEuropean journal of medical genetics
_gvol. 54
_gno. 3
_gp. 256-61
856 4 0 _uhttps://doi.org/10.1016/j.ejmg.2011.02.002
_zAvailable from publisher's website
999 _c20610376
_d20610376