|1.||Parenti, Giancarlo: 2 articles (07/2015 - 04/2007)|
|2.||Offiah, Amaka C: 1 article (07/2015)|
|3.||Collardeau-Frachon, Sophie: 1 article (07/2015)|
|4.||Cordier, Marie Pierre: 1 article (07/2015)|
|5.||Vianey-Saban, Christine: 1 article (07/2015)|
|6.||Le Merrer, Martine: 1 article (07/2015)|
|7.||Bouvier, Raymonde: 1 article (07/2015)|
|8.||Le Breton, Frédérique: 1 article (07/2015)|
|9.||Hall, Christine M: 1 article (07/2015)|
|10.||Rossi, Massimiliano: 1 article (07/2015)|
|1.||Chondrodysplasia Punctata (Stippled Epiphyses)
12/01/2013 - "Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. "
08/01/2013 - "The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). "
11/01/2009 - "Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childhood. "
07/01/2015 - "Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. "
|2.||Vitamin K Deficiency
|3.||Spinal Cord Compression
|4.||Pathologic Constriction (Stenosis)
06/01/2002 - "We report two boys with phenotypic features of brachytelephalangic chondrodysplasia punctata who had severe cervical spine stenosis secondary to dysplastic cervical vertebrae, and discuss the significance of this association and its relation to the phenotypically similar Binder phenotype."
06/01/2002 - "Severe cervical spine stenosis with cord compression has not been well documented in brachytelephalangic chondrodysplasia punctata. "
06/01/2002 - "Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases."
11/01/2007 - "We report a boy with phenotypic features of brachytelephalangic chondrodysplasia punctata (BCDP) who had severe cervical spine stenosis successfully corrected by vertebrectomies of C6 and C7 with a fibular strut graft. "
|5.||Hearing Loss (Hearing Impairment)
|1.||human ARSE protein