| 000 | 01305 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250513081603.0 | ||
| 264 | 0 | _c19930520 | |
| 008 | 199305s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.30.3.255 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBonthron, D T | |
| 245 | 0 | 0 |
_aParental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMar 1993 |
||
| 300 |
_a255-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aBlepharophimosis _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aFacial Bones _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypothyroidism _xgenetics |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aRibs _xabnormalities |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aBarlow, K M | |
| 700 | 1 | _aBurt, A M | |
| 700 | 1 | _aBarr, D G | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 30 _gno. 3 _gp. 255-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.30.3.255 _zAvailable from publisher's website |
| 999 |
_c8473381 _d8473381 |
||