| 000 | 01421 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250517155641.0 | ||
| 264 | 0 | _c20170803 | |
| 008 | 201708s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-017-0426-3 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPowis, Zöe | |
| 245 | 0 | 0 |
_aClinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. _h[electronic resource] |
| 260 |
_bBMC medical genetics _c06 2017 |
||
| 300 |
_a60 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aClubfoot _xdiagnosis |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPierre Robin Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aPrognosis |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aHart, Alexa | |
| 700 | 1 | _aCherny, Sara | |
| 700 | 1 | _aPetrik, Igor | |
| 700 | 1 | _aPalmaer, Erika | |
| 700 | 1 | _aTang, Sha | |
| 700 | 1 | _aJones, Carolyn | |
| 773 | 0 |
_tBMC medical genetics _gvol. 18 _gno. 1 _gp. 60 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-017-0426-3 _zAvailable from publisher's website |
| 999 |
_c27242156 _d27242156 |
||