| 000 | 01572 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517221344.0 | ||
| 264 | 0 | _c20191028 | |
| 008 | 201910s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13388 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIto, Y A | |
| 245 | 0 | 0 |
_aA ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. _h[electronic resource] |
| 260 |
_bClinical genetics _c10 2018 |
||
| 300 |
_a303-312 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aAlopecia _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney _xabnormalities |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aSmith, A C | |
| 700 | 1 | _aKernohan, K D | |
| 700 | 1 | _aPena, I A | |
| 700 | 1 | _aAhmed, A | |
| 700 | 1 | _aMcDonell, L M | |
| 700 | 1 | _aBeaulieu, C | |
| 700 | 1 | _aBulman, D E | |
| 700 | 1 | _aSmidt, A | |
| 700 | 1 | _aSawyer, S L | |
| 700 | 1 | _aDyment, D A | |
| 700 | 1 | _aBoycott, K M | |
| 700 | 1 | _aClericuzio, C L | |
| 773 | 0 |
_tClinical genetics _gvol. 94 _gno. 3-4 _gp. 303-312 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13388 _zAvailable from publisher's website |
| 999 |
_c28479787 _d28479787 |
||