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Article

Restrictive dermopathy: report of two siblings.

Pediatrics and neonatology - 1 Jun 2013

Lu Chih-Sheng, Wu Shu-Chuan, Hou Jia-Woei, Chu Chih-Ping, Tseng Lo-Lin, Lue Hung-Chi

Abstract excerpt

Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD. His skin biopsy showed typical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23597553
DOI: 10.1016/j.pedneo.2012.11.012

Genes

ZMPSTE24

Provenance

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