| 000 | 01745 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250517152727.0 | ||
| 264 | 0 | _c20170727 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2017.04.008 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPatel, Nisha | |
| 245 | 0 | 0 |
_aGZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cMay 2017 |
||
| 300 |
_a831-836 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Heterogeneity |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKruppel-Like Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aShamseldin, Hanan E | |
| 700 | 1 | _aSakati, Nadia | |
| 700 | 1 | _aKhan, Arif O | |
| 700 | 1 | _aSofta, Ameen | |
| 700 | 1 | _aAl-Fadhli, Fatima M | |
| 700 | 1 | _aHashem, Mais | |
| 700 | 1 | _aAbdulwahab, Firdous M | |
| 700 | 1 | _aAlshidi, Tarfa | |
| 700 | 1 | _aAlomar, Rana | |
| 700 | 1 | _aAlobeid, Eman | |
| 700 | 1 | _aWakil, Salma M | |
| 700 | 1 | _aColak, Dilek | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 100 _gno. 5 _gp. 831-836 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2017.04.008 _zAvailable from publisher's website |
| 999 |
_c27145549 _d27145549 |
||