000 01511 a2200421 4500
005 20250516231619.0
264 0 _c20150727
008 201507s 0 0 eng d
022 _a1552-4876
024 7 _a10.1002/ajmg.c.31409
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSousa, Sérgio B
245 0 0 _aPhenotype and genotype in Nicolaides-Baraitser syndrome.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part C, Seminars in medical genetics
_cSep 2014
300 _a302-14 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aEpilepsy
_xgenetics
650 0 4 _aFace
_xabnormalities
650 0 4 _aFacies
650 0 4 _aFoot Deformities, Congenital
_xdiagnosis
650 0 4 _aGenetic Association Studies
650 0 4 _aHair
_xabnormalities
650 0 4 _aHumans
650 0 4 _aHypotrichosis
_xdiagnosis
650 0 4 _aIntellectual Disability
_xdiagnosis
650 0 4 _aMutation
650 0 4 _aSkin Abnormalities
_xgenetics
650 0 4 _aTranscription Factors
_xgenetics
650 0 4 _aYoung Adult
700 1 _aHennekam, Raoul C
773 0 _tAmerican journal of medical genetics. Part C, Seminars in medical genetics
_gvol. 166C
_gno. 3
_gp. 302-14
856 4 0 _uhttps://doi.org/10.1002/ajmg.c.31409
_zAvailable from publisher's website
999 _c24141397
_d24141397