| 000 | 01591 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516080456.0 | ||
| 264 | 0 | _c20120730 | |
| 008 | 201207s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35244 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFernández, Raquel M | |
| 245 | 0 | 0 |
_aAssociation of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cApr 2012 |
||
| 300 |
_a816-20 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCerebral Aqueduct _xabnormalities |
| 650 | 0 | 4 |
_aCorpus Callosum _xpathology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnosis |
| 650 | 0 | 4 |
_aHirschsprung Disease _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydrocephalus _xdiagnosis |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNeural Cell Adhesion Molecule L1 _xgenetics |
| 650 | 0 | 4 | _aProto-Oncogene Mas |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aNúñez-Torres, Rocío | |
| 700 | 1 | _aGarcía-Díaz, Lutgardo | |
| 700 | 1 | _ade Agustín, Juan Carlos | |
| 700 | 1 | _aAntiñolo, Guillermo | |
| 700 | 1 | _aBorrego, Salud | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 158A _gno. 4 _gp. 816-20 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35244 _zAvailable from publisher's website |
| 999 |
_c21555024 _d21555024 |
||