| 000 | 01358 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250518034142.0 | ||
| 264 | 0 | _c20190904 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2019.04.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aColson, Cindy | |
| 245 | 0 | 0 |
_aUnusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJul 2019 |
||
| 300 |
_a103648 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAutistic Disorder _xgenetics |
| 650 | 0 | 4 |
_aCalcium Channels, L-Type _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLong QT Syndrome _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPlakophilins _xgenetics |
| 650 | 0 | 4 |
_aSyndactyly _xgenetics |
| 700 | 1 | _aMittre, Hervé | |
| 700 | 1 | _aBusson, Adeline | |
| 700 | 1 | _aLeenhardt, Antoine | |
| 700 | 1 | _aDenjoy, Isabelle | |
| 700 | 1 | _aFressard, Véronique | |
| 700 | 1 | _aTroadec, Yann | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 62 _gno. 7 _gp. 103648 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2019.04.005 _zAvailable from publisher's website |
| 999 |
_c29602239 _d29602239 |
||