| 000 | 01718 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517073421.0 | ||
| 264 | 0 | _c20170104 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37559 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFernández, Raquel M | |
| 245 | 0 | 0 |
_aInterstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2016 |
||
| 300 |
_a1268-73 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosome Disorders _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 10 _xgenetics |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aDiGeorge Syndrome _xgenetics |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoparathyroidism _xgenetics |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNephrosis _xgenetics |
| 700 | 1 | _aSánchez, Javier | |
| 700 | 1 | _aGarcía-Díaz, Lutgardo | |
| 700 | 1 | _aPeláez-Nora, Yolanda | |
| 700 | 1 | _aGonzález-Meneses, Antonio | |
| 700 | 1 | _aAntiñolo, Guillermo | |
| 700 | 1 | _aBorrego, Salud | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170A _gno. 5 _gp. 1268-73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37559 _zAvailable from publisher's website |
| 999 |
_c25626730 _d25626730 |
||