000 01876 a2200553 4500
005 20250515234203.0
264 0 _c20100901
008 201009s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2010.07.011
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWilliams, Stephen R
245 0 0 _aHaploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cAug 2010
300 _a219-28 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aBase Sequence
650 0 4 _aBehavior
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDevelopmental Disabilities
_xcomplications
650 0 4 _aFemale
650 0 4 _aGene Deletion
650 0 4 _aHand Deformities, Congenital
_xcomplications
650 0 4 _aHaploidy
650 0 4 _aHistone Deacetylases
_xgenetics
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aIntellectual Disability
_xcomplications
650 0 4 _aMolecular Sequence Data
650 0 4 _aPregnancy
650 0 4 _aRadiography
650 0 4 _aRepressor Proteins
_xgenetics
650 0 4 _aSyndrome
700 1 _aAldred, Micheala A
700 1 _aDer Kaloustian, Vazken M
700 1 _aHalal, Fahed
700 1 _aGowans, Gordon
700 1 _aMcLeod, D Ross
700 1 _aZondag, Sara
700 1 _aToriello, Helga V
700 1 _aMagenis, R Ellen
700 1 _aElsea, Sarah H
773 0 _tAmerican journal of human genetics
_gvol. 87
_gno. 2
_gp. 219-28
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2010.07.011
_zAvailable from publisher's website
999 _c20029898
_d20029898