000 01431 a2200409 4500
005 20250516173128.0
264 0 _c20140716
008 201407s 0 0 eng d
022 _a1878-0849
024 7 _a10.1016/j.ejmg.2013.09.012
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aChouery, Eliane
245 0 0 _aCraniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.
_h[electronic resource]
260 _bEuropean journal of medical genetics
_cDec 2013
300 _a674-7 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Review
650 0 4 _aAnal Canal
_xabnormalities
650 0 4 _aCell Cycle Proteins
_xgenetics
650 0 4 _aChild, Preschool
650 0 4 _aCraniosynostoses
_xdiagnosis
650 0 4 _aDigestive System Abnormalities
_xdiagnosis
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aPorokeratosis
_xdiagnosis
650 0 4 _aRecQ Helicases
_xgenetics
650 0 4 _aSiblings
700 1 _aGuissart, Claire
700 1 _aMégarbané, Hala
700 1 _aAral, Bernard
700 1 _aNassif, Charbel
700 1 _aThauvin-Robinet, Christel
700 1 _aFaivre, Laurence
700 1 _aMégarbané, André
773 0 _tEuropean journal of medical genetics
_gvol. 56
_gno. 12
_gp. 674-7
856 4 0 _uhttps://doi.org/10.1016/j.ejmg.2013.09.012
_zAvailable from publisher's website
999 _c23143293
_d23143293