000 02029 a2200601 4500
005 20250517130925.0
264 0 _c20161229
008 201612s 0 0 eng d
022 _a1533-4406
024 7 _a10.1056/NEJMoa1509164
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aPunwani, Divya
245 0 0 _aMultisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
_h[electronic resource]
260 _bThe New England journal of medicine
_c12 2016
300 _a2165-2176 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAnimals
650 0 4 _aBrain
_xdiagnostic imaging
650 0 4 _aCell Movement
650 0 4 _aDisease Models, Animal
650 0 4 _aGene Expression Regulation
650 0 4 _aHematopoietic Stem Cell Transplantation
650 0 4 _aHematopoietic Stem Cells
_xmetabolism
650 0 4 _aHumans
650 0 4 _aIn Vitro Techniques
650 0 4 _aInfant, Newborn
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aMutation, Missense
650 0 4 _aNeonatal Screening
_xmethods
650 0 4 _aReceptors, Antigen, T-Cell
650 0 4 _aRepressor Proteins
_xdeficiency
650 0 4 _aSevere Combined Immunodeficiency
_xgenetics
650 0 4 _aTumor Suppressor Proteins
_xdeficiency
650 0 4 _aZebrafish
_xgrowth & development
700 1 _aZhang, Yong
700 1 _aYu, Jason
700 1 _aCowan, Morton J
700 1 _aRana, Sadhna
700 1 _aKwan, Antonia
700 1 _aAdhikari, Aashish N
700 1 _aLizama, Carlos O
700 1 _aMendelsohn, Bryce A
700 1 _aFahl, Shawn P
700 1 _aChellappan, Ajithavalli
700 1 _aSrinivasan, Rajgopal
700 1 _aBrenner, Steven E
700 1 _aWiest, David L
700 1 _aPuck, Jennifer M
773 0 _tThe New England journal of medicine
_gvol. 375
_gno. 22
_gp. 2165-2176
856 4 0 _uhttps://doi.org/10.1056/NEJMoa1509164
_zAvailable from publisher's website
999 _c26692817
_d26692817