| 000 | 01566 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250518052843.0 | ||
| 264 | 0 | _c20200803 | |
| 008 | 202008s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.61302 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHancarova, Miroslava | |
| 245 | 0 | 0 |
_aParental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c10 2019 |
||
| 300 |
_a2119-2123 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 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGonads _xpathology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNFI Transcription Factors _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHavlovicova, Marketa | |
| 700 | 1 | _aPutzova, Martina | |
| 700 | 1 | _aVseticka, Jan | |
| 700 | 1 | _aPrchalova, Darina | |
| 700 | 1 | _aStranecky, Viktor | |
| 700 | 1 | _aSedlacek, Zdenek | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 179 _gno. 10 _gp. 2119-2123 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.61302 _zAvailable from publisher's website |
| 999 |
_c29963196 _d29963196 |
||