000 02014 a2200589 4500
005 20250516014153.0
264 0 _c20110118
008 201101s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2010.10.003
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLi, Yun
245 0 0 _aTemtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cDec 2010
300 _a757-67 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aBone Morphogenetic Proteins
_xmetabolism
650 0 4 _aBrachydactyly
650 0 4 _aChromosome Mapping
650 0 4 _aChromosomes, Human, Pair 15
650 0 4 _aFoot Deformities, Congenital
_xgenetics
650 0 4 _aHand Deformities, Congenital
_xgenetics
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aN-Acetylgalactosaminyltransferases
_xgenetics
650 0 4 _aSignal Transduction
650 0 4 _aSyndrome
650 0 4 _aZebrafish
700 1 _aLaue, Kathrin
700 1 _aTemtamy, Samia
700 1 _aAglan, Mona
700 1 _aKotan, L Damla
700 1 _aYigit, Gökhan
700 1 _aCanan, Husniye
700 1 _aPawlik, Barbara
700 1 _aNürnberg, Gudrun
700 1 _aWakeling, Emma L
700 1 _aQuarrell, Oliver W
700 1 _aBaessmann, Ingelore
700 1 _aLanktree, Matthew B
700 1 _aYilmaz, Mustafa
700 1 _aHegele, Robert A
700 1 _aAmr, Khalda
700 1 _aMay, Klaus W
700 1 _aNürnberg, Peter
700 1 _aTopaloglu, A Kemal
700 1 _aHammerschmidt, Matthias
700 1 _aWollnik, Bernd
773 0 _tAmerican journal of human genetics
_gvol. 87
_gno. 6
_gp. 757-67
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2010.10.003
_zAvailable from publisher's website
999 _c20421114
_d20421114