| 000 | 01649 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250515174409.0 | ||
| 264 | 0 | _c20090923 | |
| 008 | 200909s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32889 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGraul-Neumann, Luitgard M | |
| 245 | 0 | 0 |
_aBoy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJul 2009 |
||
| 300 |
_a1487-93 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBrain Injuries _xcomplications |
| 650 | 0 | 4 | _aChromogranins |
| 650 | 0 | 4 |
_aCongenital Hypothyroidism _xcomplications |
| 650 | 0 | 4 |
_aCraniofacial Dysostosis _xcomplications |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 |
_aGTP-Binding Protein alpha Subunits, Gs _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydrocephalus _xcomplications |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntracranial Hemorrhages _xcomplications |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPseudohypoparathyroidism _xcomplications |
| 700 | 1 | _aBach, Alexia | |
| 700 | 1 | _aAlbani, Michael | |
| 700 | 1 | _aRinge, Hannelore | |
| 700 | 1 | _aWeimann, Andreas | |
| 700 | 1 | _aKress, Wolfram | |
| 700 | 1 | _aHiort, Olaf | |
| 700 | 1 | _aBartsch, Oliver | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 149A _gno. 7 _gp. 1487-93 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32889 _zAvailable from publisher's website |
| 999 |
_c18949003 _d18949003 |
||