| 000 | 01788 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516163224.0 | ||
| 264 | 0 | _c20140515 | |
| 008 | 201405s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36081 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDupont, Céline | |
| 245 | 0 | 0 |
_aCOL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cOct 2013 |
||
| 300 |
_a2663-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aArthritis _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Banding |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 12 |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
| 650 | 0 | 4 |
_aCollagen Type II _xgenetics |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aRetinal Detachment _xdiagnosis |
| 650 | 0 | 4 | _aTranslocation, Genetic |
| 700 | 1 | _aBaumann, Clarisse | |
| 700 | 1 | _aLe Du, Nathalie | |
| 700 | 1 | _aSchaefer, Elise | |
| 700 | 1 | _aGuimiot, Fabien | |
| 700 | 1 | _aBoutaud, Lucile | |
| 700 | 1 | _aCapri, Yline | |
| 700 | 1 | _aSpaggiari, Emmanuel | |
| 700 | 1 | _aAboura, Azzedine | |
| 700 | 1 | _aBenzacken, Brigitte | |
| 700 | 1 | _aTabet, Anne-Claude | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 10 _gp. 2663-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36081 _zAvailable from publisher's website |
| 999 |
_c22978685 _d22978685 |
||