| 000 | 01437 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515233621.0 | ||
| 264 | 0 | _c20110103 | |
| 008 | 201101s 0 0 eng d | ||
| 022 | _a1473-5717 | ||
| 024 | 7 |
_a10.1097/MCD.0b013e32833dc5ee _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRuiter, Mariken | |
| 245 | 0 | 0 |
_aA MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. _h[electronic resource] |
| 260 |
_bClinical dysmorphology _cOct 2010 |
||
| 300 |
_a195-197 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 |
_aEsophagus _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertelorism _xgenetics |
| 650 | 0 | 4 |
_aHypospadias _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrotubule Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aUbiquitin-Protein Ligases |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _aMeroni, Germana | |
| 700 | 1 | _ade Vries, Bert B A | |
| 773 | 0 |
_tClinical dysmorphology _gvol. 19 _gno. 4 _gp. 195-197 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MCD.0b013e32833dc5ee _zAvailable from publisher's website |
| 999 |
_c20011009 _d20011009 |
||