MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Title
MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 87, Issue 5, Pages 679-686
Publisher
Elsevier BV
Online
2010-10-29
DOI
10.1016/j.ajhg.2010.09.018

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