| 000 | 01351 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516193628.0 | ||
| 264 | 0 | _c20141020 | |
| 008 | 201410s 0 0 eng d | ||
| 022 | _a1473-5717 | ||
| 024 | 7 |
_a10.1097/MCD.0000000000000025 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKhalifa, Ola | |
| 245 | 0 | 0 |
_aCombined TSC1 and LMX1B mutations in a single patient. _h[electronic resource] |
| 260 |
_bClinical dysmorphology _cApr 2014 |
||
| 300 |
_a47-51 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLIM-Homeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aTuberous Sclerosis _xgenetics |
| 650 | 0 | 4 | _aTuberous Sclerosis Complex 1 Protein |
| 650 | 0 | 4 |
_aTumor Suppressor Proteins _xgenetics |
| 700 | 1 | _aAl-Sakati, Nadia | |
| 700 | 1 | _aAl-Mane, Khalid | |
| 700 | 1 | _aBalobaid, Ameera | |
| 700 | 1 | _aAl-Hassnan, Zuhair N | |
| 773 | 0 |
_tClinical dysmorphology _gvol. 23 _gno. 2 _gp. 47-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MCD.0000000000000025 _zAvailable from publisher's website |
| 999 |
_c23498037 _d23498037 |
||