| 000 | 01369 a2200313 4500 | ||
|---|---|---|---|
| 005 | 20250518013034.0 | ||
| 264 | 0 | _c20190925 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.60672 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 245 | 0 | 0 |
_aNew Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c11 2018 |
||
| 300 |
_a2234-2235 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aActins _xmetabolism |
| 650 | 0 | 4 |
_aAnterior Commissure, Brain _xabnormalities |
| 650 | 0 | 4 |
_aCerebellum _xabnormalities |
| 650 | 0 | 4 |
_aCorpus Callosum _xdiagnostic imaging |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLissencephaly _xcomplications |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNervous System Malformations _xcomplications |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aalpha Catenin _xgenetics |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 176 _gno. 11 _gp. 2234-2235 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.60672 _zAvailable from publisher's website |
| 999 |
_c29150446 _d29150446 |
||