| 000 | 01744 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515233959.0 | ||
| 264 | 0 | _c20101215 | |
| 008 | 201012s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33563 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aReish, Orit | |
| 245 | 0 | 0 |
_aMosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cSep 2010 |
||
| 300 |
_a2230-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 | _aDwarfism |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGrowth Disorders _xetiology |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMonosomy |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xetiology |
| 650 | 0 | 4 | _aRecurrence |
| 650 | 0 | 4 | _aRisk |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aShort Stature Homeobox Protein |
| 650 | 0 | 4 |
_aTurner Syndrome _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHuber, Céline | |
| 700 | 1 | _aAltarescu, Gheona | |
| 700 | 1 | _aChapman-Shimshoni, Daphne | |
| 700 | 1 | _aLevy-Lahad, Ephrat | |
| 700 | 1 | _aRenbaum, Paul | |
| 700 | 1 | _aMashevich, Maya | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 9 _gp. 2230-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33563 _zAvailable from publisher's website |
| 999 |
_c20022844 _d20022844 |
||