| 000 | 01252 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250514054718.0 | ||
| 264 | 0 | _c20030908 | |
| 008 | 200309s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.10023 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMégarbané, André | |
| 245 | 0 | 0 |
_aUnknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cFeb 2003 |
||
| 300 |
_a381-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAbnormalities, Multiple |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy _xcongenital |
| 650 | 0 | 4 | _aSyndrome |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 116A _gno. 4 _gp. 381-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.10023 _zAvailable from publisher's website |
| 999 |
_c12325241 _d12325241 |
||