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Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly
Author(s) -
Bonapace Giuseppe,
Ceravolo Ferdinando,
Piccirillo Alessandro,
Duro Giovanni,
Strisciuglio Pietro,
Concolino Daniela
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33671
Subject(s) - medicine , pediatrics
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