| 000 | 01764 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515043329.0 | ||
| 264 | 0 | _c20070329 | |
| 008 | 200703s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5201717 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMartínez-Garay, Isabel | |
| 245 | 0 | 0 |
_aA two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2007 |
||
| 300 |
_a29-34 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMicrophthalmos _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aTomás, Miguel | |
| 700 | 1 | _aOltra, Silvestre | |
| 700 | 1 | _aRamser, Juliane | |
| 700 | 1 | _aMoltó, Maria D | |
| 700 | 1 | _aPrieto, Félix | |
| 700 | 1 | _aMeindl, Alfons | |
| 700 | 1 | _aKutsche, Kerstin | |
| 700 | 1 | _aMartínez, Francisco | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 15 _gno. 1 _gp. 29-34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201717 _zAvailable from publisher's website |
| 999 |
_c16610118 _d16610118 |
||