| 000 | 01593 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250514235538.0 | ||
| 264 | 0 | _c20050928 | |
| 008 | 200509s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.30892 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBhat, Shambhu S | |
| 245 | 0 | 0 |
_aA novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cSep 2005 |
||
| 300 |
_a70-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAgenesis of Corpus Callosum |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain _xabnormalities |
| 650 | 0 | 4 |
_aChromosomes, Human, X _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 |
_aGenitalia, Male _xabnormalities |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aRogers, R Curtis | |
| 700 | 1 | _aHolden, Kenton R | |
| 700 | 1 | _aSrivastava, Anand K | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 138 _gno. 1 _gp. 70-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.30892 _zAvailable from publisher's website |
| 999 |
_c15734794 _d15734794 |
||