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