| 000 | 01440 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516185550.0 | ||
| 264 | 0 | _c20150413 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36237 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWoods, Susan A | |
| 245 | 0 | 0 |
_aExome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJan 2014 |
||
| 300 |
_a251-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aAutopsy |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aE1A-Associated p300 Protein _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRubinstein-Taybi Syndrome _xdiagnosis |
| 700 | 1 | _aRobinson, Haynes B | |
| 700 | 1 | _aKohler, Lisa J | |
| 700 | 1 | _aAgamanolis, Dimitris | |
| 700 | 1 | _aSterbenz, George | |
| 700 | 1 | _aKhalifa, Mohamed | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 1 _gp. 251-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36237 _zAvailable from publisher's website |
| 999 |
_c23381235 _d23381235 |
||