000 01158 a2200301 4500
005 20250518053710.0
264 0 _c20200427
008 202004s 0 0 eng d
022 _a1750-1172
024 7 _a10.1186/s13023-019-1170-x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRozas, M Fernanda
245 0 0 _aAssociation between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
_h[electronic resource]
260 _bOrphanet journal of rare diseases
_c08 2019
300 _a195 p.
_bdigital
500 _aPublication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't; Review; Systematic Review
650 0 4 _aArachnodactyly
_xgenetics
650 0 4 _aChromosome Deletion
650 0 4 _aCraniosynostoses
_xgenetics
650 0 4 _aHumans
650 0 4 _aMarfan Syndrome
_xgenetics
650 0 4 _aPhenotype
700 1 _aBenavides, Felipe
700 1 _aLeón, Luis
700 1 _aRepetto, Gabriela M
773 0 _tOrphanet journal of rare diseases
_gvol. 14
_gno. 1
_gp. 195
856 4 0 _uhttps://doi.org/10.1186/s13023-019-1170-x
_zAvailable from publisher's website
999 _c29992261
_d29992261