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Article

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian journal of pediatrics - 21 Jul 2021

Wu Shao-Wen, Li Lin, Feng Fan, Wang Li, Kong Yuan-Yuan, Liu Xiao-Wei, Yin Chenghong

Abstract excerpt

BACKGROUND: Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, and mental impairment. CASE PRESENTATION: A 6-year-old patient, who initially presented with multiple postnatal abnormalities, facial dysplasia, micrognathia, skull appearance, hallux valgus, and...

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Identifiers

PMID: 34289880
DOI: 10.1186/s13052-021-01112-6
PMCID: PMC8296688

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