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Phenotypic Variability in Two Families of Muenke Syndrome withFGFR3Mutation

✍ Scribed by Singh, Ankur; Goyal, Manisha; Kumar, Somesh; Kress, Wolfram; Kapoor, Seema


Book ID
125378284
Publisher
Springer-Verlag
Year
2014
Tongue
English
Weight
522 KB
Volume
81
Category
Article
ISSN
0019-5456

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## Abstract Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a