| 000 | 01489 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515123652.0 | ||
| 264 | 0 | _c20080820 | |
| 008 | 200808s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32389 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTzschach, Andreas | |
| 245 | 0 | 0 |
_aCzech dysplasia: report of a large family and further delineation of the phenotype. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJul 2008 |
||
| 300 |
_a1859-64 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 |
_aBone Diseases, Developmental _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCollagen Type II _xgenetics |
| 650 | 0 | 4 | _aCzech Republic |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aTinschert, Sigrid | |
| 700 | 1 | _aKaminsky, Elke | |
| 700 | 1 | _aLusga, Eugen | |
| 700 | 1 | _aMundlos, Stefan | |
| 700 | 1 | _aGraul-Neumann, Luitgard M | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 146A _gno. 14 _gp. 1859-64 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32389 _zAvailable from publisher's website |
| 999 |
_c18038714 _d18038714 |
||