| 000 | 01286 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517132951.0 | ||
| 264 | 0 | _c20170518 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-016-0364-5 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBlanco-Kelly, Fiona | |
| 245 | 0 | 0 |
_aNew CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cJan 2017 |
||
| 300 |
_a1 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aATP-Binding Cassette Transporters _xgenetics |
| 650 | 0 | 4 |
_aCadherins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypotrichosis _xcongenital |
| 650 | 0 | 4 |
_aMacular Degeneration _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aRodrigues-Jacy da Silva, Luciana | |
| 700 | 1 | _aSanchez-Navarro, Iker | |
| 700 | 1 | _aRiveiro-Alvarez, Rosa | |
| 700 | 1 | _aLopez-Martinez, Miguel Angel | |
| 700 | 1 | _aCorton, Marta | |
| 700 | 1 | _aAyuso, Carmen | |
| 773 | 0 |
_tBMC medical genetics _gvol. 18 _gno. 1 _gp. 1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-016-0364-5 _zAvailable from publisher's website |
| 999 |
_c26760561 _d26760561 |
||