| 000 | 01570 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250518021119.0 | ||
| 264 | 0 | _c20200518 | |
| 008 | 202005s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13516 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDentici, Maria L | |
| 245 | 0 | 0 |
_aExpanding the clinical spectrum associated with PACS2 mutations. _h[electronic resource] |
| 260 |
_bClinical genetics _c04 2019 |
||
| 300 |
_a525-531 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aBrain _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 | _aGenetic Loci |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aBarresi, Sabina | |
| 700 | 1 | _aNiceta, Marcello | |
| 700 | 1 | _aCiolfi, Andrea | |
| 700 | 1 | _aTrivisano, Marina | |
| 700 | 1 | _aBartuli, Andrea | |
| 700 | 1 | _aDigilio, Maria C | |
| 700 | 1 | _aSpecchio, Nicola | |
| 700 | 1 | _aDallapiccola, Bruno | |
| 700 | 1 | _aTartaglia, Marco | |
| 773 | 0 |
_tClinical genetics _gvol. 95 _gno. 4 _gp. 525-531 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13516 _zAvailable from publisher's website |
| 999 |
_c29294588 _d29294588 |
||