| 000 | 01486 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517195909.0 | ||
| 264 | 0 | _c20180903 | |
| 008 | 201809s 0 0 eng d | ||
| 022 | _a1473-5717 | ||
| 024 | 7 |
_a10.1097/MCD.0000000000000214 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYu, Kris P T | |
| 245 | 0 | 0 |
_aMandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. _h[electronic resource] |
| 260 |
_bClinical dysmorphology _cApr 2018 |
||
| 300 |
_a31-35 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPeptide Elongation Factors _xgenetics |
| 650 | 0 | 4 |
_aProtein Isoforms _xgenetics |
| 650 | 0 | 4 |
_aRibonucleoprotein, U5 Small Nuclear _xgenetics |
| 700 | 1 | _aLuk, Ho-Ming | |
| 700 | 1 | _aGordon, Christopher T | |
| 700 | 1 | _aFung, Genevieve | |
| 700 | 1 | _aOufadem, Myriam | |
| 700 | 1 | _aGarcia-Barcelo, Maria M | |
| 700 | 1 | _aAmiel, Jeanne | |
| 700 | 1 | _aChung, Brian H Y | |
| 700 | 1 | _aLo, Ivan F M | |
| 700 | 1 | _aTiong, Yang Tan | |
| 773 | 0 |
_tClinical dysmorphology _gvol. 27 _gno. 2 _gp. 31-35 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MCD.0000000000000214 _zAvailable from publisher's website |
| 999 |
_c28025354 _d28025354 |
||