Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sipek, A; Grodecka, L; Baxova, A; Cibulkova, P; Dvorakova, M; Mazurova, S; Magner, M; Zeman, J; Honzik, T; Freiberger, T, 2014: Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 164(6), p. 1559 - 1564, doi: 10.1002/ajmg.a.36480

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