The male phenotype in osteopathia striata congenita with cranial sclerosis

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2397-2408

  Holman, Sarah K ^a   Daniel, Phil ^a   Jenkins, Zandra A ^a   Herron, Rachel L ^a   Morgan, Tim ^a   Savarirayan, Ravi ^b   Chow, C W ^b   Bohring, Axel ^c   Mosel, Annette ^d   Lacombe, Didier ^e   Steiner, Bernhard ^f   Schmitt Mechelke, Thomas ^g   Schroter, Barbara ^g   Raas Rothschild, Annick ^h   Miñaur, Sixto Garcia ⁱ   Porteous, Mary ⁱ   Parker, Michael ^j   Quarrell, Oliver ^j   Tapon, Dagmar ^k   Cormier Daire, Valérie ^l   Mansour, Sahar ^m   Nash, Ruth ^m   Bindoff, Laurence A ⁿ   Fiskerstrand, Torunn ⁿ   Robertson, Stephen P ^a   more..

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d Andreas Bannowsky Ltd   (Germany)

^e UNIVERSITÉ DE BORDEAUX   (France)

^f UNIVERSITY OF ZURICH   (Switzerland)

^g CHILDREN S HOSPITAL   (Switzerland)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ WESTERN GENERAL HOSPITAL   (United Kingdom)

^j SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^k QUEEN CHARLOTTE S AND CHELSEA HOSPITAL   (United Kingdom)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m ST GEORGE S HOSPITAL   (United Kingdom)

ⁿ HAUKELAND UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

Osteopathia striata with cranial sclerosis; Skeletal dysplasia; WTX

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DISEASE SEVERITY; EMBRYO; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT CONTRACTURE; MALE; NEMALINE MYOPATHY; OSTEOPATHIA STRIATA CONGENITA WITH CRANIAL SCLEROSIS; OSTEOSCLEROSIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BONE AND BONES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; LUCIFERASES; MACROCEPHALY; MALE; OSTEOSCLEROSIS; PHENOTYPE; TUMOR SUPPRESSOR PROTEINS;

EID: 80053104552     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34178     Document Type: Article

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