| 000 | 01723 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250517203417.0 | ||
| 264 | 0 | _c20191024 | |
| 008 | 201910s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13211 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBruel, A-L | |
| 245 | 0 | 0 |
_aUnexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. _h[electronic resource] |
| 260 |
_bClinical genetics _c07 2018 |
||
| 300 |
_a182-184 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aColoboma _xdiagnosis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHedgehog Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aThevenon, J | |
| 700 | 1 | _aHuet, F | |
| 700 | 1 | _aJean-Marcais, N | |
| 700 | 1 | _aOdent, S | |
| 700 | 1 | _aDubourg, C | |
| 700 | 1 | _aLehalle, D | |
| 700 | 1 | _aTran Mau-Them, F | |
| 700 | 1 | _aPhilippe, C | |
| 700 | 1 | _aMoutton, S | |
| 700 | 1 | _aHoucinat, N | |
| 700 | 1 | _aGay, S | |
| 700 | 1 | _aGuibaud, L | |
| 700 | 1 | _aDuffourd, Y | |
| 700 | 1 | _aRivière, J-B | |
| 700 | 1 | _aFaivre, L | |
| 700 | 1 | _aThauvin-Robinet, C | |
| 773 | 0 |
_tClinical genetics _gvol. 94 _gno. 1 _gp. 182-184 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13211 _zAvailable from publisher's website |
| 999 |
_c28139225 _d28139225 |
||