000 | 01639 a2200481 4500 | ||
---|---|---|---|
005 | 20250511210922.0 | ||
264 | 0 | _c19910906 | |
008 | 199109s 0 0 eng d | ||
022 | _a0022-2593 | ||
024 | 7 |
_a10.1136/jmg.28.5.297 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aVerloes, A | |
245 | 0 | 0 |
_aHoloprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. _h[electronic resource] |
260 |
_bJournal of medical genetics _cMay 1991 |
||
300 |
_a297-303 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Multicenter Study; Review | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xclassification |
650 | 0 | 4 | _aChromosomes, Human, Pair 13 |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 | _aDiagnosis, Differential |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aFetal Death _xetiology |
650 | 0 | 4 |
_aFetal Diseases _xdiagnosis |
650 | 0 | 4 |
_aFingers _xabnormalities |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 |
_aHoloprosencephaly _xclassification |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPrenatal Diagnosis |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aThanatophoric Dysplasia _xdiagnosis |
650 | 0 | 4 | _aTrisomy |
700 | 1 | _aAymé, S | |
700 | 1 | _aGambarelli, D | |
700 | 1 | _aGonzales, M | |
700 | 1 | _aLe Merrer, M | |
700 | 1 | _aMulliez, N | |
700 | 1 | _aPhilip, N | |
700 | 1 | _aRoume, J | |
773 | 0 |
_tJournal of medical genetics _gvol. 28 _gno. 5 _gp. 297-303 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.28.5.297 _zAvailable from publisher's website |
999 |
_c1871670 _d1871670 |