Heart defects, oral clefts, and polydactyly caused by novel compound heterozygous variants in WDPCP gene involved in ciliogenesis

Ana Rita Ferreira Pacheco Quental, Carlos Mariz,Carla Ramalho,Joao Parente Freixo, Pedro Louro,Miguel Leao

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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