000 | 01410 a2200421 4500 | ||
---|---|---|---|
005 | 20250515031355.0 | ||
264 | 0 | _c20060928 | |
008 | 200609s 0 0 eng d | ||
022 | _a1552-4825 | ||
024 | 7 |
_a10.1002/ajmg.a.31316 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMégarbané, André | |
245 | 0 | 0 |
_aA newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cJul 2006 |
||
300 |
_a1491-6 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aBone Diseases, Developmental _xgenetics |
650 | 0 | 4 |
_aBone and Bones _xabnormalities |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aRetina _xabnormalities |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aGhanem, Ismat | |
700 | 1 | _aWaked, Naji | |
700 | 1 | _aDagher, Fernand | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 140 _gno. 14 _gp. 1491-6 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.31316 _zAvailable from publisher's website |
999 |
_c16365963 _d16365963 |