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Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC. Landino J, et al. J Perinat Neonatal Nurs. 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. J Perinat Neonatal Nurs. 2017. PMID: 29068853 Review.
This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognosis....
This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognos …
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR. Motley AM, et al. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 Jan 7. Am J Hum Genet. 2002. PMID: 11781871 Free PMC article.
Surprisingly, one of the mild alleles comprises a duplication of nucleotides 45-52, which is predicted to lead to a frameshift at codon 17 and an absence of functional peroxin 7. The ability of this allele to complement the targeting defect in RCDP cells suggests that fram …
Surprisingly, one of the mild alleles comprises a duplication of nucleotides 45-52, which is predicted to lead to a frameshift at cod …