| 000 | 01470 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516180459.0 | ||
| 264 | 0 | _c20141114 | |
| 008 | 201411s 0 0 eng d | ||
| 022 | _a2191-0251 | ||
| 024 | 7 |
_a10.1515/jpem-2013-0260 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWang, Chun Lin | |
| 245 | 0 | 0 |
_aA de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. _h[electronic resource] |
| 260 |
_bJournal of pediatric endocrinology & metabolism : JPEM _cMar 2014 |
||
| 300 |
_a343-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xcomplications |
| 650 | 0 | 4 | _aAdrenal Insufficiency |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDAX-1 Orphan Nuclear Receptor _xgenetics |
| 650 | 0 | 4 | _aDNA Primers |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHypoadrenocorticism, Familial |
| 650 | 0 | 4 |
_aHypogonadism _xcomplications |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 700 | 1 | _aFen, Zhu Wei | |
| 700 | 1 | _aLiang, Li | |
| 773 | 0 |
_tJournal of pediatric endocrinology & metabolism : JPEM _gvol. 27 _gno. 3-4 _gp. 343-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1515/jpem-2013-0260 _zAvailable from publisher's website |
| 999 |
_c23236847 _d23236847 |
||