000 | 01652 a2200445 4500 | ||
---|---|---|---|
005 | 20250516055049.0 | ||
264 | 0 | _c20120601 | |
008 | 201206s 0 0 eng d | ||
022 | _a1473-5717 | ||
024 | 7 |
_a10.1097/MCD.0b013e32834977f1 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aZahanova, Stacy | |
245 | 0 | 0 |
_aBlepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. _h[electronic resource] |
260 |
_bClinical dysmorphology _cJan 2012 |
||
300 |
_a48-52 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aBlepharophimosis _xgenetics |
650 | 0 | 4 | _aCerebral Palsy |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
650 | 0 | 4 |
_aEyelids _xabnormalities |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aForkhead Box Protein L2 |
650 | 0 | 4 |
_aForkhead Transcription Factors _xgenetics |
650 | 0 | 4 | _aGenes, Dominant |
650 | 0 | 4 |
_aGenitalia, Male _xabnormalities |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aSkin Abnormalities _xgenetics |
700 | 1 | _aMeaney, Brandon | |
700 | 1 | _aŁabieniec, Beata | |
700 | 1 | _aVerdin, Hannah | |
700 | 1 | _aDe Baere, Elfride | |
700 | 1 | _aNowaczyk, Małgorzata J M | |
773 | 0 |
_tClinical dysmorphology _gvol. 21 _gno. 1 _gp. 48-52 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1097/MCD.0b013e32834977f1 _zAvailable from publisher's website |
999 |
_c21172846 _d21172846 |