| 000 | 01970 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250516004759.0 | ||
| 264 | 0 | _c20110204 | |
| 008 | 201102s 0 0 eng d | ||
| 022 | _a1945-7197 | ||
| 024 | 7 |
_a10.1210/jc.2010-1539 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMorava, Eva | |
| 245 | 0 | 0 |
_aAutosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. _h[electronic resource] |
| 260 |
_bThe Journal of clinical endocrinology and metabolism _cJan 2011 |
||
| 300 |
_aE189-98 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAnkylosis _xgenetics |
| 650 | 0 | 4 |
_aBone Diseases, Metabolic _xgenetics |
| 650 | 0 | 4 |
_aCalcinosis _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypophosphatemia _xgenetics |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aJoints _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphate Transport Proteins _xgenetics |
| 700 | 1 | _aKühnisch, Jirko | |
| 700 | 1 | _aDrijvers, Jefte M | |
| 700 | 1 | _aRobben, Joris H | |
| 700 | 1 | _aCremers, Cor | |
| 700 | 1 | _avan Setten, Petra | |
| 700 | 1 | _aBranten, Amanda | |
| 700 | 1 | _aStumpp, Sabine | |
| 700 | 1 | _ade Jong, Alphons | |
| 700 | 1 | _aVoesenek, Krysta | |
| 700 | 1 | _aVermeer, Sascha | |
| 700 | 1 | _aHeister, Angelien | |
| 700 | 1 | _aClaahsen-van der Grinten, Hedi L | |
| 700 | 1 | _aO'Neill, Charles W | |
| 700 | 1 | _aWillemsen, Michèl A | |
| 700 | 1 | _aLefeber, Dirk | |
| 700 | 1 | _aDeen, Peter M T | |
| 700 | 1 | _aKornak, Uwe | |
| 700 | 1 | _aKremer, Hannie | |
| 700 | 1 | _aWevers, Ron A | |
| 773 | 0 |
_tThe Journal of clinical endocrinology and metabolism _gvol. 96 _gno. 1 _gp. E189-98 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1210/jc.2010-1539 _zAvailable from publisher's website |
| 999 |
_c20247485 _d20247485 |
||