Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa

Majed Dasouki, Dessislava Markova, Robert Garola, Takako Sasaki, Noe L. Charbonneau, Lynn Y. Sakai, Mon Li Chu

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95 Scopus citations

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Medicine & Life Sciences