Publications
Export 2 results:
Author [ Title
] Year Filters: Author is Antaya, Richard J and First Letter Of Title is P [Clear All Filters]
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. Am J Med Genet A 179, 2469-2473 (2019).
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. J Cutan Pathol 47, 681-685 (2020).
