Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

Muhammad Zakaria, Ambrin Fatima, Joakim Klar, Johan Wikström, Uzma Abdullah, Zafar Ali, Talia Akram, Muhammad Tariq, Habib Ahmad, Jens Schuster, Shahid M. Baig, Niklas Dahl

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology