| 000 | 01600 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517202809.0 | ||
| 264 | 0 | _c20181010 | |
| 008 | 201810s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2018.02.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVillafuerte, Beatriz | |
| 245 | 0 | 0 |
_aThe Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJul 2018 |
||
| 300 |
_a393-398 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAthetosis _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChorea _xgenetics |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 14 _xgenetics |
| 650 | 0 | 4 |
_aCongenital Hypothyroidism _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunologic Deficiency Syndromes _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRespiratory Distress Syndrome, Newborn _xgenetics |
| 700 | 1 | _aNatera-de-Benito, Daniel | |
| 700 | 1 | _aGonzález, Aidy | |
| 700 | 1 | _aMori, María A | |
| 700 | 1 | _aPalomares, María | |
| 700 | 1 | _aNevado, Julián | |
| 700 | 1 | _aGarcía-Miñaur, Sixto | |
| 700 | 1 | _aLapunzina, Pablo | |
| 700 | 1 | _aGonzález-Granado, Luis I | |
| 700 | 1 | _aAllende, Luis M | |
| 700 | 1 | _aMoreno, José C | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 61 _gno. 7 _gp. 393-398 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2018.02.007 _zAvailable from publisher's website |
| 999 |
_c28119585 _d28119585 |
||