000 01608 a2200457 4500
005 20250514075522.0
264 0 _c20031010
008 200310s 0 0 eng d
022 _a0007-0963
024 7 _a10.1046/j.1365-2133.2003.05423.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aTsutsui, K
245 0 0 _aA novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.
_h[electronic resource]
260 _bThe British journal of dermatology
_cAug 2003
300 _a395-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aCleft Lip
_xgenetics
650 0 4 _aCleft Palate
_xgenetics
650 0 4 _aDNA-Binding Proteins
650 0 4 _aEctodermal Dysplasia
_xgenetics
650 0 4 _aEyelids
_xabnormalities
650 0 4 _aFemale
650 0 4 _aGenes, Tumor Suppressor
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aMembrane Proteins
650 0 4 _aMutation
650 0 4 _aPhosphoproteins
_xgenetics
650 0 4 _aSyndrome
650 0 4 _aTrans-Activators
_xgenetics
650 0 4 _aTranscription Factors
650 0 4 _aTumor Suppressor Proteins
700 1 _aAsai, Y
700 1 _aFujimoto, A
700 1 _aYamamoto, M
700 1 _aKubo, M
700 1 _aHatta, N
773 0 _tThe British journal of dermatology
_gvol. 149
_gno. 2
_gp. 395-9
856 4 0 _uhttps://doi.org/10.1046/j.1365-2133.2003.05423.x
_zAvailable from publisher's website
999 _c12703857
_d12703857