| 000 | 01618 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516184130.0 | ||
| 264 | 0 | _c20140911 | |
| 008 | 201409s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36302 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFernández, Raquel M | |
| 245 | 0 | 0 |
_aWaardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cFeb 2014 |
||
| 300 |
_a542-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aGene Order |
| 650 | 0 | 4 | _aHirschsprung Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSOXE Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aSpain |
| 650 | 0 | 4 |
_aWaardenburg Syndrome _xdiagnosis |
| 700 | 1 | _aNúñez-Ramos, Raquel | |
| 700 | 1 | _aEnguix-Riego, M Valle | |
| 700 | 1 | _aRomán-Rodríguez, Francisco José | |
| 700 | 1 | _aGalán-Gómez, Enrique | |
| 700 | 1 | _aBlesa-Sánchez, Emilio | |
| 700 | 1 | _aAntiñolo, Guillermo | |
| 700 | 1 | _aNúñez-Núñez, Ramón | |
| 700 | 1 | _aBorrego, Salud | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 2 _gp. 542-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36302 _zAvailable from publisher's website |
| 999 |
_c23341550 _d23341550 |
||