MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of carnevale, malpuech, OSA, and michels syndromes

Asli Sirmaci, Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yildirim Bayezit Şakalar, Aylin Hasanefendioǧlu-Bayrak, Duygu Duman, Amjad Farooq, Mary Claire King, Mustafa Tekin

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101 Scopus citations

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