| 000 | 01291 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517213215.0 | ||
| 264 | 0 | _c20190904 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1741-4520 | ||
| 024 | 7 |
_a10.1111/cga.12285 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSalian, Smrithi | |
| 245 | 0 | 0 |
_aFurther evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. _h[electronic resource] |
| 260 |
_bCongenital anomalies _cJan 2019 |
||
| 300 |
_a26-27 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnostic imaging |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xdiagnostic imaging |
| 650 | 0 | 4 |
_aDysostoses _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Atrophy _xdiagnostic imaging |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aNampoothiri, Sheela | |
| 700 | 1 | _aShukla, Anju | |
| 700 | 1 | _aGirisha, Katta M | |
| 773 | 0 |
_tCongenital anomalies _gvol. 59 _gno. 1 _gp. 26-27 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cga.12285 _zAvailable from publisher's website |
| 999 |
_c28335302 _d28335302 |
||