| 000 | 01881 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516145907.0 | ||
| 264 | 0 | _c20160415 | |
| 008 | 201604s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35874 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSpeksnijder, Leonie | |
| 245 | 0 | 0 |
_aA de novo GLI3 mutation in a patient with acrocallosal syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJun 2013 |
||
| 300 |
_a1394-400 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aAcrocallosal Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aAcrocephalosyndactylia _xdiagnosis |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aCraniosynostoses _xdiagnosis |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aKruppel-Like Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 | _aZinc Finger Protein Gli3 |
| 700 | 1 | _aCohen-Overbeek, Titia E | |
| 700 | 1 | _aKnapen, Maarten F C M | |
| 700 | 1 | _aLunshof, Simone M | |
| 700 | 1 | _aHoogeboom, A Jeannette M | |
| 700 | 1 | _avan den Ouwenland, Ans M | |
| 700 | 1 | _ade Coo, Irenaneus F M | |
| 700 | 1 | _aLequin, Maarten H | |
| 700 | 1 | _aBolz, Hanno J | |
| 700 | 1 | _aBergmann, Carsten | |
| 700 | 1 | _aBiesecker, Leslie G | |
| 700 | 1 | _aWillems, Patrick J | |
| 700 | 1 | _aWessels, Marja W | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 6 _gp. 1394-400 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35874 _zAvailable from publisher's website |
| 999 |
_c22713990 _d22713990 |
||