| 000 | 01524 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517075707.0 | ||
| 264 | 0 | _c20170104 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37580 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGund, Christian | |
| 245 | 0 | 0 |
_aIdentification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2016 |
||
| 300 |
_a1330-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChromosome Duplication |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aTranscription Factors |
| 700 | 1 | _aPowis, Zöe | |
| 700 | 1 | _aAlcaraz, Wendy | |
| 700 | 1 | _aDesai, Sonal | |
| 700 | 1 | _aBaranano, Kristin | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170A _gno. 5 _gp. 1330-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37580 _zAvailable from publisher's website |
| 999 |
_c25691765 _d25691765 |
||