Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family

Publications

Clinical dysmorphology, Feb 2025 DOI:

10.1097/MCD.0000000000000520

Shirodkar, Aditi Nilesh; Akhil, K A; Bhat, Vivekananda; Shah, Hitesh; Shukla, Anju; Periyasamy, Radhakrishnan

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NGS

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Product Used

NGS

Genes