000 01427 a2200397 4500
005 20250516232404.0
264 0 _c20150612
008 201506s 0 0 eng d
022 _a1878-0849
024 7 _a10.1016/j.ejmg.2014.08.004
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGulati, Reena
245 0 0 _aCo-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
_h[electronic resource]
260 _bEuropean journal of medical genetics
_cOct 2014
300 _a576-8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aBlepharophimosis
_xcomplications
650 0 4 _aChild, Preschool
650 0 4 _aFathers
650 0 4 _aForkhead Box Protein L2
650 0 4 _aForkhead Transcription Factors
_xgenetics
650 0 4 _aHumans
650 0 4 _aHydronephrosis
_xcomplications
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aSkin Abnormalities
_xcomplications
650 0 4 _aUrogenital Abnormalities
700 1 _aVerdin, Hannah
700 1 _aHalanaik, Dhanapathi
700 1 _aBhat, B Vishnu
700 1 _aDe Baere, Elfride
773 0 _tEuropean journal of medical genetics
_gvol. 57
_gno. 10
_gp. 576-8
856 4 0 _uhttps://doi.org/10.1016/j.ejmg.2014.08.004
_zAvailable from publisher's website
999 _c24163546
_d24163546