000 | 01370 a2200361 4500 | ||
---|---|---|---|
005 | 20250516105553.0 | ||
264 | 0 | _c20130219 | |
008 | 201302s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.35584 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aAl-Qattan, Mohammad M | |
245 | 0 | 0 |
_aA novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cOct 2012 |
||
300 |
_a2610-5 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aEnhancer Elements, Genetic _xgenetics |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aHand Deformities, Congenital _xgenetics |
650 | 0 | 4 |
_aHedgehog Proteins _xchemistry |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPoint Mutation |
650 | 0 | 4 |
_aPolydactyly _xgenetics |
650 | 0 | 4 |
_aRadius _xpathology |
650 | 0 | 4 |
_aThumb _xabnormalities |
700 | 1 | _aAl Abdulkareem, Ibrahim | |
700 | 1 | _aAl Haidan, Yazied | |
700 | 1 | _aAl Balwi, Mohammed | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 158A _gno. 10 _gp. 2610-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35584 _zAvailable from publisher's website |
999 |
_c22035344 _d22035344 |