| 000 | 01577 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516005006.0 | ||
| 264 | 0 | _c20110204 | |
| 008 | 201102s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33674 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFurtado, Larissa V | |
| 245 | 0 | 0 |
_aA novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cNov 2010 |
||
| 300 |
_a2838-44 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnostic imaging |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnostic imaging |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aInheritance Patterns _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aSteroid Isomerases _xgenetics |
| 650 | 0 | 4 |
_aSterols _xbiosynthesis |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aBayrak-Toydemir, Pinar | |
| 700 | 1 | _aHulinsky, Becki | |
| 700 | 1 | _aDamjanovich, Kristy | |
| 700 | 1 | _aCarey, John C | |
| 700 | 1 | _aRope, Alan F | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 11 _gp. 2838-44 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33674 _zAvailable from publisher's website |
| 999 |
_c20252870 _d20252870 |
||