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Article

Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6.

Gene - 30 Nov 2020

Liu Fan, Ji Yiming, Li Guimei, Xu Chao, Sun Yan

Abstract excerpt

OBJECTIVES: Oliver-McFarlane syndrome (OMCS) is an autosomal recessive inherited disease resulting from PNPLA6 mutations that results in intellectual impairment and profound short stature. To obtain a better understanding of the genotype-phenotype correlations for PNPLA6-related disorders, we reported the 14th OMCS case and summarized all the reported cases of OMCS. METHODS: We collected clinical biochemical and...

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Blepharoptosis
Developmental Disabilities
Dwarfism
Genetic Association Studies
Hypertrichosis

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Intellectual Disability

Retinitis Pigmentosa

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PMID: 32758583
DOI: 10.1016/j.gene.2020.145027

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