| 000 | 01640 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517013035.0 | ||
| 264 | 0 | _c20160429 | |
| 008 | 201604s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36916 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBalasubramanian, Meena | |
| 245 | 0 | 0 |
_aCRTAP mutation in a patient with Cole-Carpenter syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2015 |
||
| 300 |
_a587-91 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBone and Bones _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCraniosynostoses _xdiagnosis |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
| 650 | 0 | 4 |
_aEye Abnormalities _xdiagnosis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydrocephalus _xdiagnosis |
| 650 | 0 | 4 | _aMolecular Chaperones |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aPollitt, Rebecca C | |
| 700 | 1 | _aChandler, Kate E | |
| 700 | 1 | _aMughal, M Z | |
| 700 | 1 | _aParker, Michael J | |
| 700 | 1 | _aDalton, Ann | |
| 700 | 1 | _aArundel, Paul | |
| 700 | 1 | _aOffiah, Amaka C | |
| 700 | 1 | _aBishop, Nicholas J | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 167A _gno. 3 _gp. 587-91 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36916 _zAvailable from publisher's website |
| 999 |
_c24549458 _d24549458 |
||