| 000 | 01877 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250518070557.0 | ||
| 264 | 0 | _c20200505 | |
| 008 | 202005s 0 0 eng d | ||
| 022 | _a1552-4876 | ||
| 024 | 7 |
_a10.1002/ajmg.c.31750 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOstrowski, Philip J | |
| 245 | 0 | 0 |
_aNull variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part C, Seminars in medical genetics _c12 2019 |
||
| 300 |
_a638-643 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xgenetics |
| 650 | 0 | 4 |
_aObesity _xgenetics |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aZachariou, Anna | |
| 700 | 1 | _aLoveday, Chey | |
| 700 | 1 | _aBaralle, Diana | |
| 700 | 1 | _aBlair, Edward | |
| 700 | 1 | _aDouzgou, Sofia | |
| 700 | 1 | _aField, Michael | |
| 700 | 1 | _aFoster, Alison | |
| 700 | 1 | _aKyle, Claire | |
| 700 | 1 | _aLachlan, Katherine | |
| 700 | 1 | _aMansour, Sahar | |
| 700 | 1 | _aNaik, Swati | |
| 700 | 1 | _aRea, Gillian | |
| 700 | 1 | _aSmithson, Sarah | |
| 700 | 1 | _aSznajer, Yves | |
| 700 | 1 | _aThompson, Elizabeth | |
| 700 | 1 | _aCole, Trevor | |
| 700 | 1 | _aTatton-Brown, Katrina | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part C, Seminars in medical genetics _gvol. 181 _gno. 4 _gp. 638-643 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.c.31750 _zAvailable from publisher's website |
| 999 |
_c30300114 _d30300114 |
||