| 000 | 01433 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515135402.0 | ||
| 264 | 0 | _c20090402 | |
| 008 | 200904s 0 0 eng d | ||
| 022 | _a1651-2227 | ||
| 024 | 7 |
_a10.1111/j.1651-2227.2008.01039.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRepetto, Gabriela M | |
| 245 | 0 | 0 |
_aLater-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. _h[electronic resource] |
| 260 |
_bActa paediatrica (Oslo, Norway : 1992) _cJan 2009 |
||
| 300 |
_a192-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoventilation _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aPeptides _xgenetics |
| 650 | 0 | 4 |
_aSleep Apnea, Central _xcongenital |
| 650 | 0 | 4 | _aTime Factors |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aCorrales, Raul J | |
| 700 | 1 | _aAbara, Selim G | |
| 700 | 1 | _aZhou, Lili | |
| 700 | 1 | _aBerry-Kravis, Elizabeth M | |
| 700 | 1 | _aRand, Casey M | |
| 700 | 1 | _aWeese-Mayer, Debra E | |
| 773 | 0 |
_tActa paediatrica (Oslo, Norway : 1992) _gvol. 98 _gno. 1 _gp. 192-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1651-2227.2008.01039.x _zAvailable from publisher's website |
| 999 |
_c18266904 _d18266904 |
||