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Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type.

Pediatrics and neonatology - 1 Jun 2018

Lin Wei-De, Wang Chung-Hsing, Tsai Fuu-Jen

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Identifiers

PMID: 29503224
DOI: 10.1016/j.pedneo.2017.11.017

Genes

NPR2

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Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type.PMID 29503224Read ↗

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Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteauxSemantic proximity Read ↗

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.Semantic proximity Read ↗

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