000 01546 a2200469 4500
005 20250518035707.0
264 0 _c20200113
008 202001s 0 0 eng d
022 _a1885-5857
024 7 _a10.1016/j.rec.2019.01.014
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPiqueras-Flores, Jesús
245 0 0 _aIncomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.
_h[electronic resource]
260 _bRevista espanola de cardiologia (English ed.)
_cOct 2019
300 _a868-870 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aDNA
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFemale
650 0 4 _aFibrillin-1
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMitral Valve Prolapse
_xdiagnosis
650 0 4 _aMutation
650 0 4 _aMyopia
_xdiagnosis
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aSkin Diseases
_xdiagnosis
650 0 4 _aTomography, X-Ray Computed
650 0 4 _aYoung Adult
700 1 _aTrujillo-Quintero, Juan Pablo
700 1 _aFrías-García, Raquel
700 1 _aGonzález-Marín, María Arántzazu
700 1 _aMonserrat, Lorenzo
700 1 _aHernández-Herrera, Germán
773 0 _tRevista espanola de cardiologia (English ed.)
_gvol. 72
_gno. 10
_gp. 868-870
856 4 0 _uhttps://doi.org/10.1016/j.rec.2019.01.014
_zAvailable from publisher's website
999 _c29655642
_d29655642