| 000 | 01446 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250516150157.0 | ||
| 264 | 0 | _c20140102 | |
| 008 | 201401s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/1750-1172-8-68 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBurkitt Wright, Emma M M | |
| 245 | 0 | 0 |
_aBrittle cornea syndrome: recognition, molecular diagnosis and management. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _cMay 2013 |
||
| 300 |
_a68 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aEhlers-Danlos Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aEye Abnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aJoint Instability _xcongenital |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSkin Abnormalities |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aPorter, Louise F | |
| 700 | 1 | _aSpencer, Helen L | |
| 700 | 1 | _aClayton-Smith, Jill | |
| 700 | 1 | _aAu, Leon | |
| 700 | 1 | _aMunier, Francis L | |
| 700 | 1 | _aSmithson, Sarah | |
| 700 | 1 | _aSuri, Mohnish | |
| 700 | 1 | _aRohrbach, Marianne | |
| 700 | 1 | _aManson, Forbes D C | |
| 700 | 1 | _aBlack, Graeme C M | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 8 _gp. 68 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-8-68 _zAvailable from publisher's website |
| 999 |
_c22722374 _d22722374 |
||