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Article

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.

The Journal of perinatal & neonatal nursing - 1 Jan 2017

Landino Jessica, Jnah Amy J, Newberry Desi M, Iben Sabine C

Abstract excerpt

Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate...

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PMID: 29068853
DOI: 10.1097/JPN.0000000000000282

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