000 01627 a2200457 4500
005 20250517182430.0
264 0 _c20171102
008 201711s 0 0 eng d
022 _a1471-2350
024 7 _a10.1186/s12881-017-0479-3
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWessel, Karen
245 0 0 _a17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
_h[electronic resource]
260 _bBMC medical genetics
_c10 2017
300 _a119 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAtaxia
_xdiagnosis
650 0 4 _aChild
650 0 4 _aChromosome Duplication
650 0 4 _aChromosomes, Human, Pair 17
_xchemistry
650 0 4 _aDevelopmental Disabilities
_xdiagnosis
650 0 4 _aElectroencephalography
650 0 4 _aGene Dosage
650 0 4 _aGene Expression
650 0 4 _aHumans
650 0 4 _aLearning Disabilities
_xdiagnosis
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aProteins
_xgenetics
650 0 4 _aPsychomotor Disorders
_xdiagnosis
650 0 4 _aSeizures
_xdiagnosis
650 0 4 _aSelf-Injurious Behavior
_xdiagnosis
650 0 4 _aSpeech Disorders
_xdiagnosis
700 1 _aSuleiman, Jehan
700 1 _aKhalaf, Tamam E
700 1 _aKishore, Shivendra
700 1 _aRolfs, Arndt
700 1 _aEl-Hattab, Ayman W
773 0 _tBMC medical genetics
_gvol. 18
_gno. 1
_gp. 119
856 4 0 _uhttps://doi.org/10.1186/s12881-017-0479-3
_zAvailable from publisher's website
999 _c27722130
_d27722130