| 000 | 01655 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516150018.0 | ||
| 264 | 0 | _c20160415 | |
| 008 | 201604s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35919 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBunyan, David J | |
| 245 | 0 | 0 |
_aDiagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJun 2013 |
||
| 300 |
_a1329-38 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aDwarfism _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFollow-Up Studies |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aShort Stature Homeobox Protein |
| 700 | 1 | _aBaker, Kevin R | |
| 700 | 1 | _aHarvey, John F | |
| 700 | 1 | _aThomas, N Simon | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 6 _gp. 1329-38 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35919 _zAvailable from publisher's website |
| 999 |
_c22717387 _d22717387 |
||