| 000 | 01259 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250518035159.0 | ||
| 264 | 0 | _c20200708 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.61159 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHorinouchi, Tomoko | |
| 245 | 0 | 0 |
_aMale CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c07 2019 |
||
| 300 |
_a1315-1318 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChondrodysplasia Punctata _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aSkin _xpathology |
| 650 | 0 | 4 |
_aSteroid Isomerases _xgenetics |
| 700 | 1 | _aMorisada, Naoya | |
| 700 | 1 | _aUemura, Hiroyasu | |
| 700 | 1 | _aKobayashi, Daisuke | |
| 700 | 1 | _aNozu, Kandai | |
| 700 | 1 | _aOkamoto, Nobuhiko | |
| 700 | 1 | _aIijima, Kazumoto | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 179 _gno. 7 _gp. 1315-1318 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.61159 _zAvailable from publisher's website |
| 999 |
_c29636739 _d29636739 |
||