VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

doi:10.1016/j.gim.2026.102579

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Article

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2026

Lehman Anna, Ahmed Sana, Mohajeri Arezoo, Berezuk Alison M, Mannar Dhiraj, Cholak Spencer, Tuttle Katharine S, Bennett James T, Magno Jeanine Aparecida, Hannibal Mark, Kovacevic Gordana, Kuburović Vladimir, Lewis M E Suzanne, Moldovan Oana, Nelson Zoe, Raskin Salmo, Vandersteen Anthony M, Roach Jared C, Subramaniam Sriram, Patel Millan S

Abstract excerpt

PURPOSE: Adams-Oliver syndrome (AOS) is a genetically heterogeneous disorder with cardinal features of aplasia cutis congenita and terminal limb reduction defects. A minority of individuals with AOS develop potentially lethal pulmonary hypertension (PH) in infancy, a subgroup that has been refractory to genetic explanation. METHODS: We studied a cohort of individuals with AOS and no genetic diagnosis by genome...

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PMID: 41979051
DOI: 10.1016/j.gim.2026.102579

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