000 01764 a2200541 4500
005 20250514040128.0
264 0 _c20020920
008 200209s 0 0 eng d
022 _a0148-7299
024 7 _a10.1002/ajmg.10400
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aChun, Kathy
245 0 0 _aGenetic analysis of patients with the Saethre-Chotzen phenotype.
_h[electronic resource]
260 _bAmerican journal of medical genetics
_cJun 2002
300 _a136-43 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAcrocephalosyndactylia
_xgenetics
650 0 4 _aChild, Preschool
650 0 4 _aDNA
_xchemistry
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aInfant
650 0 4 _aKaryotyping
650 0 4 _aMale
650 0 4 _aMutation, Missense
650 0 4 _aNuclear Proteins
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aProtein-Tyrosine Kinases
650 0 4 _aReceptor, Fibroblast Growth Factor, Type 3
650 0 4 _aReceptors, Fibroblast Growth Factor
_xgenetics
650 0 4 _aTranscription Factors
_xgenetics
650 0 4 _aTwist-Related Protein 1
700 1 _aTeebi, Ahmad S
700 1 _aJung, Jack H
700 1 _aKennedy, Shelley
700 1 _aLaframboise, Rachel
700 1 _aMeschino, Wendy S
700 1 _aNakabayashi, Kazuhiko
700 1 _aScherer, Stephen W
700 1 _aRay, Peter N
700 1 _aTeshima, Ikuko
773 0 _tAmerican journal of medical genetics
_gvol. 110
_gno. 2
_gp. 136-43
856 4 0 _uhttps://doi.org/10.1002/ajmg.10400
_zAvailable from publisher's website
999 _c12007355
_d12007355