| 000 | 01599 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514195811.0 | ||
| 264 | 0 | _c20050318 | |
| 008 | 200503s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.30149 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMacías-Gómez, Nelly Margarita | |
| 245 | 0 | 0 |
_aDiastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cAug 2004 |
||
| 300 |
_a190-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAnion Transport Proteins |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFoot Bones _xabnormalities |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMembrane Transport Proteins |
| 650 | 0 | 4 | _aMexico |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aSpine _xabnormalities |
| 650 | 0 | 4 | _aSulfate Transporters |
| 700 | 1 | _aMégarbané, André | |
| 700 | 1 | _aLeal-Ugarte, Evelia | |
| 700 | 1 | _aRodríguez-Rojas, Lisa Ximena | |
| 700 | 1 | _aBarros-Núñez, Patricio | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 129A _gno. 2 _gp. 190-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.30149 _zAvailable from publisher's website |
| 999 |
_c15015718 _d15015718 |
||