000 01570 a2200469 4500
005 20250515035451.0
264 0 _c20061024
008 200610s 0 0 eng d
022 _a1552-4825
024 7 _a10.1002/ajmg.a.31420
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWang, Raymond Y
245 0 0 _aA previously unreported mutation in a Currarino syndrome kindred.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cSep 2006
300 _a1923-30 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xdiagnostic imaging
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aAnal Canal
_xabnormalities
650 0 4 _aChild
650 0 4 _aHomeodomain Proteins
_xgenetics
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aRadiography
650 0 4 _aRectum
_xabnormalities
650 0 4 _aSacrum
_xabnormalities
650 0 4 _aSyndrome
650 0 4 _aTranscription Factors
_xgenetics
700 1 _aJones, Julie R
700 1 _aChen, Steve
700 1 _aRogers, R Curtis
700 1 _aFriez, Michael J
700 1 _aSchwartz, Charles E
700 1 _aGraham, John M
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 140
_gno. 18
_gp. 1923-30
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.31420
_zAvailable from publisher's website
999 _c16493924
_d16493924