| 000 | 01531 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250518040009.0 | ||
| 264 | 0 | _c20200708 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.61166 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGolas, Monika M | |
| 245 | 0 | 0 |
_aLooking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c07 2019 |
||
| 300 |
_a1383-1389 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBone Morphogenetic Protein Receptors, Type I _xgenetics |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 10 |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHamartoma Syndrome, Multiple _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPTEN Phosphohydrolase _xgenetics |
| 700 | 1 | _aAuber, Bernd | |
| 700 | 1 | _aRipperger, Tim | |
| 700 | 1 | _aPabst, Brigitte | |
| 700 | 1 | _aSchmidt, Gunnar | |
| 700 | 1 | _aMorlot, Michel | |
| 700 | 1 | _aDiebold, Uta | |
| 700 | 1 | _aSteinemann, Doris | |
| 700 | 1 | _aSchlegelberger, Brigitte | |
| 700 | 1 | _aMorlot, Susanne | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 179 _gno. 7 _gp. 1383-1389 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.61166 _zAvailable from publisher's website |
| 999 |
_c29664680 _d29664680 |
||