000 02077 a2200637 4500
005 20250516062610.0
264 0 _c20120118
008 201201s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.34178
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHolman, Sarah K
245 0 0 _aThe male phenotype in osteopathia striata congenita with cranial sclerosis.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cOct 2011
300 _a2397-408 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdaptor Proteins, Signal Transducing
_xgenetics
650 0 4 _aBone and Bones
_xpathology
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA Primers
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenetic Diseases, X-Linked
_xgenetics
650 0 4 _aHumans
650 0 4 _aLuciferases
650 0 4 _aMale
650 0 4 _aMegalencephaly
_xpathology
650 0 4 _aOsteosclerosis
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aTumor Suppressor Proteins
_xgenetics
700 1 _aDaniel, Phil
700 1 _aJenkins, Zandra A
700 1 _aHerron, Rachel L
700 1 _aMorgan, Tim
700 1 _aSavarirayan, Ravi
700 1 _aChow, C W
700 1 _aBohring, Axel
700 1 _aMosel, Annette
700 1 _aLacombe, Didier
700 1 _aSteiner, Bernhard
700 1 _aSchmitt-Mechelke, Thomas
700 1 _aSchroter, Barbara
700 1 _aRaas-Rothschild, Annick
700 1 _aMiñaur, Sixto Garcia
700 1 _aPorteous, Mary
700 1 _aParker, Michael
700 1 _aQuarrell, Oliver
700 1 _aTapon, Dagmar
700 1 _aCormier-Daire, Valérie
700 1 _aMansour, Sahar
700 1 _aNash, Ruth
700 1 _aBindoff, Laurence A
700 1 _aFiskerstrand, Torunn
700 1 _aRobertson, Stephen P
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 155A
_gno. 10
_gp. 2397-408
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.34178
_zAvailable from publisher's website
999 _c21273996
_d21273996