000 | 01537 a2200457 4500 | ||
---|---|---|---|
005 | 20250515123651.0 | ||
264 | 0 | _c20080820 | |
008 | 200808s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.32380 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGuilherme, Romain | |
245 | 0 | 0 |
_aHumero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cJul 2008 |
||
300 |
_a1775-80 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Review | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAgenesis of Corpus Callosum |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, Recessive |
650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
650 | 0 | 4 |
_aGenitalia, Male _xabnormalities |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHumerus _xabnormalities |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrocephaly _xgenetics |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPregnancy |
650 | 0 | 4 |
_aRadius _xabnormalities |
650 | 0 | 4 | _aSiblings |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aSynostosis _xgenetics |
700 | 1 | _aBaumann, Clarisse | |
700 | 1 | _aGarel, Catherine | |
700 | 1 | _aHuten, Yolène | |
700 | 1 | _aOury, Jean-François | |
700 | 1 | _aDelezoide, Anne-Lise | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 146A _gno. 14 _gp. 1775-80 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32380 _zAvailable from publisher's website |
999 |
_c18038685 _d18038685 |