| 000 | 01260 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250514201522.0 | ||
| 264 | 0 | _c20050208 | |
| 008 | 200502s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.30138 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMégarbané, André | |
| 245 | 0 | 0 |
_aA newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cOct 2004 |
||
| 300 |
_a176-80 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnostic imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMusculoskeletal Abnormalities |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xpathology |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMelick, Nancy | |
| 700 | 1 | _aDaou, Linda | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 130A _gno. 2 _gp. 176-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.30138 _zAvailable from publisher's website |
| 999 |
_c15066428 _d15066428 |
||