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