Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

Clinical Genetics

Volumn 83, Issue 3, 2013, Pages 251-256

  Holman, S K ^a   Morgan, T ^a   Baujat, G ^b   Cormier Daire, V ^b   Cho, T J ^c   Lees, M ^d   Samanich, J ^e   Tapon, D ^f   Hove, H D ^g   Hing, A ^h   Hennekam, R ⁱ   Robertson, S P ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Seoul National University College of Medicine   (South Korea)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e MONTEFIORE MEDICAL CENTER   (United States)

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

^g International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^h UNIVERSITY OF WASHINGTON   (United States)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Deletion; Intellectual disability; Osteopathia striata with cranial sclerosis; Skeletal dysplasia; WTX

Indexed keywords

ARTICLE; BONE DYSPLASIA; CLEFT PALATE; CLINICAL ARTICLE; COPY NUMBER VARIATION; FEMALE; GENE; GENE DELETION; GENE LOCUS; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NERVE CELL DIFFERENTIATION; OSTEOPATHIA STRIATA CONGENITA WITH CRANIAL SCLEROSIS; OSTEOSCLEROSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCLEROSIS; WTX GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHROMOSOMES, HUMAN, X; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENES, X-LINKED; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INTELLECTUAL DISABILITY; OSTEOSCLEROSIS; POINT MUTATION; TUMOR SUPPRESSOR PROTEINS;

EID: 84874022254     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01905.x     Document Type: Article

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