| 000 | 01478 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517114634.0 | ||
| 264 | 0 | _c20170626 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12867 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFaridi, R | |
| 245 | 0 | 0 |
_aMutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. _h[electronic resource] |
| 260 |
_bClinical genetics _c02 2017 |
||
| 300 |
_a328-332 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 |
_aClaudins _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGonadal Dysgenesis, 46,XX _xgenetics |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aRehman, A U | |
| 700 | 1 | _aMorell, R J | |
| 700 | 1 | _aFriedman, P L | |
| 700 | 1 | _aDemain, L | |
| 700 | 1 | _aZahra, S | |
| 700 | 1 | _aKhan, A A | |
| 700 | 1 | _aTohlob, D | |
| 700 | 1 | _aAssir, M Z | |
| 700 | 1 | _aBeaman, G | |
| 700 | 1 | _aKhan, S N | |
| 700 | 1 | _aNewman, W G | |
| 700 | 1 | _aRiazuddin, S | |
| 700 | 1 | _aFriedman, T B | |
| 773 | 0 |
_tClinical genetics _gvol. 91 _gno. 2 _gp. 328-332 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12867 _zAvailable from publisher's website |
| 999 |
_c26420113 _d26420113 |
||