| 000 | 01889 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250514041516.0 | ||
| 264 | 0 | _c20030203 | |
| 008 | 200302s 0 0 eng d | ||
| 022 | _a0964-6906 | ||
| 024 | 7 |
_a10.1093/hmg/11.17.2051 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCastanet, Mireille | |
| 245 | 0 | 0 |
_aA novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cAug 2002 |
||
| 300 |
_a2051-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCleft Palate _xgenetics |
| 650 | 0 | 4 | _aCongenital Hypothyroidism |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aForkhead Transcription Factors |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypothyroidism _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 | _aProtein Binding |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 |
_aThyroid Gland _xabnormalities |
| 700 | 1 | _aPark, Soo-Mi | |
| 700 | 1 | _aSmith, Aaron | |
| 700 | 1 | _aBost, Michel | |
| 700 | 1 | _aLéger, Juliane | |
| 700 | 1 | _aLyonnet, Stanislas | |
| 700 | 1 | _aPelet, Anna | |
| 700 | 1 | _aCzernichow, Paul | |
| 700 | 1 | _aChatterjee, Krishna | |
| 700 | 1 | _aPolak, Michel | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 11 _gno. 17 _gp. 2051-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/11.17.2051 _zAvailable from publisher's website |
| 999 |
_c12048555 _d12048555 |
||