| 000 | 01315 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250516134059.0 | ||
| 264 | 0 | _c20130805 | |
| 008 | 201308s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35758 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMeyer, Sascha | |
| 245 | 0 | 0 |
_aBrachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2013 |
||
| 300 |
_a626-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 |
_aArylsulfatases _xgenetics |
| 650 | 0 | 4 |
_aChondrodysplasia Punctata _xdiagnostic imaging |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnostic imaging |
| 650 | 0 | 4 | _aHemizygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aLöffler, Günther | |
| 700 | 1 | _aGencik, Martin | |
| 700 | 1 | _aFries, Peter | |
| 700 | 1 | _aPapanagiotou, Panagiotis | |
| 700 | 1 | _aOehl-Jaschkowitz, Barbara | |
| 700 | 1 | _aGortner, Ludwig | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 3 _gp. 626-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35758 _zAvailable from publisher's website |
| 999 |
_c22496456 _d22496456 |
||