| 000 | 01879 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517100737.0 | ||
| 264 | 0 | _c20171019 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37781 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGripp, Karen W | |
| 245 | 0 | 0 |
_aA novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c09 2016 |
||
| 300 |
_a2237-47 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDandy-Walker Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aDiagnostic Imaging |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLoose Anagen Hair Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNoonan Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein Phosphatase 1 _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 |
_aras Proteins _xmetabolism |
| 700 | 1 | _aAldinger, Kimberly A | |
| 700 | 1 | _aBennett, James T | |
| 700 | 1 | _aBaker, Laura | |
| 700 | 1 | _aTusi, Jessica | |
| 700 | 1 | _aPowell-Hamilton, Nina | |
| 700 | 1 | _aStabley, Deborah | |
| 700 | 1 | _aSol-Church, Katia | |
| 700 | 1 | _aTimms, Andrew E | |
| 700 | 1 | _aDobyns, William B | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 9 _gp. 2237-47 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37781 _zAvailable from publisher's website |
| 999 |
_c26093224 _d26093224 |
||