| 000 | 01567 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517190125.0 | ||
| 264 | 0 | _c20180827 | |
| 008 | 201808s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2017.11.018 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCheng, S W | |
| 245 | 0 | 0 |
_aA report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cApr 2018 |
||
| 300 |
_a219-224 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 |
_aADAMTS Proteins _xgenetics |
| 650 | 0 | 4 |
_aBone Diseases, Developmental _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibrillin-1 _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aWeill-Marchesani Syndrome _xgenetics |
| 700 | 1 | _aLuk, Ho-Ming | |
| 700 | 1 | _aChu, YoYo W Y | |
| 700 | 1 | _aTung, Yuet-Ling | |
| 700 | 1 | _aKwan, Elanie Yin-Wah | |
| 700 | 1 | _aLo, Ivan Fai-Man | |
| 700 | 1 | _aChung, Brian Hon-Yin | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 61 _gno. 4 _gp. 219-224 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2017.11.018 _zAvailable from publisher's website |
| 999 |
_c27840880 _d27840880 |
||