Article
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Molecular genetics & genomic medicine - 1 Jan 2024
Fu Yadong, Zhou Yueyun, Zhang Qing'e, Dong Jingjing, Zheng Jianli, Li Min, Liu Jianbing
Abstract excerpt
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia. CASE PRESENTATION: Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected...
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