Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Clinical Genetics

Volumn 80, Issue 4, 2011, Pages 383-388

  Perdu, B ^a   Lakeman, P ^b   Mortier, G ^a   Koenig, R ^c   Lachmeijer, Ama ^b   Van Hul, W ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c GOETHE UNIVERSITY   (Germany)

Author keywords

Male survival; Mutation update; Osteopathia striata with cranial sclerosis; Two novel WTX mutations

Indexed keywords

PROTEIN WTX; REPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; DNA ISOLATION; FEMALE; FETUS; GENE MUTATION; HUMAN; MALE; OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; PRIORITY JOURNAL; REPRESSOR GENE; SEQUENCE ANALYSIS; SEX DIFFERENCE;

ABNORMALITIES, MULTIPLE; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; ALTERNATIVE SPLICING; FEMALE; GENE ORDER; GENOTYPE; HUMANS; MALE; MUTATION; OSTEOSCLEROSIS; PHENOTYPE; PREGNANCY; TUMOR SUPPRESSOR PROTEINS;

EID: 79955027883     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01553.x     Document Type: Article

References (5)

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