000 01513 a2200421 4500
005 20250516230207.0
264 0 _c20160516
008 201605s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.36715
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPebrel-Richard, Celine
245 0 0 _aRefinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cNov 2014
300 _a2964-7 p.
_bdigital
500 _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Duplication
650 0 4 _aChromosomes, Human, Pair 7
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aCraniofacial Abnormalities
_xdiagnosis
650 0 4 _aFacies
650 0 4 _aHumans
650 0 4 _aLanguage Development Disorders
_xdiagnosis
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aSyndrome
700 1 _aRouzade, Charles
700 1 _aKemeny, Stephan
700 1 _aEymard-Pierre, Eleonore
700 1 _aGay-Bellile, Mathilde
700 1 _aGouas, Laetitia
700 1 _aTchirkov, Andreï
700 1 _aGoumy, Carole
700 1 _aVago, Philippe
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 164A
_gno. 11
_gp. 2964-7
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.36715
_zAvailable from publisher's website
999 _c24099302
_d24099302