| 000 | 01521 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250518075913.0 | ||
| 264 | 0 | _c20200928 | |
| 008 | 202009s 0 0 eng d | ||
| 022 | _a1473-5717 | ||
| 024 | 7 |
_a10.1097/MCD.0000000000000311 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSteel, Edward | |
| 245 | 0 | 0 |
_aCenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. _h[electronic resource] |
| 260 |
_bClinical dysmorphology _cApr 2020 |
||
| 300 |
_a73-80 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoglycemia _xdiagnosis |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLDL-Receptor Related Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aSyndactyly _xdiagnosis |
| 650 | 0 | 4 | _aTomography, X-Ray Computed |
| 700 | 1 | _aHurst, Jane A | |
| 700 | 1 | _aCullup, Thomas | |
| 700 | 1 | _aCalder, Alistair | |
| 700 | 1 | _aSivakumar, Branavan | |
| 700 | 1 | _aShah, Pratik | |
| 700 | 1 | _aWilson, Louise C | |
| 773 | 0 |
_tClinical dysmorphology _gvol. 29 _gno. 2 _gp. 73-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MCD.0000000000000311 _zAvailable from publisher's website |
| 999 |
_c30477221 _d30477221 |
||