| 000 | 01316 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250512034442.0 | ||
| 264 | 0 | _c19870520 | |
| 008 | 198705s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.24.2.118 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPatton, M A | |
| 245 | 0 | 0 |
_aAn oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cFeb 1987 |
||
| 300 |
_a118-22 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCerebellar Ataxia _xcomplications |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDihydroxyphenylalanine _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMonophenol Monooxygenase _xmetabolism |
| 650 | 0 | 4 |
_aMyopia _xcomplications |
| 650 | 0 | 4 |
_aPigmentation Disorders _xcomplications |
| 650 | 0 | 4 |
_aSkin _xmetabolism |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aBaraitser, M | |
| 700 | 1 | _aHeagerty, A H | |
| 700 | 1 | _aEady, R A | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 24 _gno. 2 _gp. 118-22 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.24.2.118 _zAvailable from publisher's website |
| 999 |
_c3110392 _d3110392 |
||