| 000 | 01368 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250518080406.0 | ||
| 264 | 0 | _c20210203 | |
| 008 | 202102s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.61480 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDíaz-González, Francisca | |
| 245 | 0 | 0 |
_aFirst case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c04 2020 |
||
| 300 |
_a628-631 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBasic Helix-Loop-Helix Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFinger Phalanges _xabnormalities |
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xetiology |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPrognosis |
| 650 | 0 | 4 |
_aSyndactyly _xetiology |
| 650 | 0 | 4 |
_aSynostosis _xetiology |
| 700 | 1 | _aParrón-Pajares, Manuel | |
| 700 | 1 | _aBarcia-Ramirez, Ana | |
| 700 | 1 | _aHeath, Karen E | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 182 _gno. 4 _gp. 628-631 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.61480 _zAvailable from publisher's website |
| 999 |
_c30494395 _d30494395 |
||