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 |