| 000 | 01742 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517172700.0 | ||
| 264 | 0 | _c20171020 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1424-859X | ||
| 024 | 7 |
_a10.1159/000478922 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSavasta, Salvatore | |
| 245 | 0 | 0 |
_aX-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. _h[electronic resource] |
| 260 |
_bCytogenetic and genome research _c2017 |
||
| 300 |
_a111-116 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aAnodontia _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCodon |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEctodermal Dysplasia 1, Anhidrotic _xgenetics |
| 650 | 0 | 4 |
_aEctodysplasins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 | _aHemizygote |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHistidine _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypohidrosis _xgenetics |
| 650 | 0 | 4 |
_aLeucine _xgenetics |
| 650 | 0 | 4 |
_aLip _xabnormalities |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMaxilla _xabnormalities |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNasal Bone _xabnormalities |
| 700 | 1 | _aCarlone, Giorgia | |
| 700 | 1 | _aCastagnoli, Riccardo | |
| 700 | 1 | _aChiappe, Francesca | |
| 700 | 1 | _aBassanese, Francesco | |
| 700 | 1 | _aPiras, Roberta | |
| 700 | 1 | _aSalpietro, Vincenzo | |
| 700 | 1 | _aBrazzelli, Valeria | |
| 700 | 1 | _aVerrotti, Alberto | |
| 700 | 1 | _aMarseglia, Gian L | |
| 773 | 0 |
_tCytogenetic and genome research _gvol. 152 _gno. 3 _gp. 111-116 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000478922 _zAvailable from publisher's website |
| 999 |
_c27533179 _d27533179 |
||