Autor: Panpan Xiao
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Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up
IntroductionOliver-McFarlane syndrome (OMCS) is a rare autosomal recessive disorder characterized by trichomegaly, severe chorioretinal dystrophy, and multiple pituitary hormone deficiencies. Its marked genetic and clinical heterogeneity presents signi…