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Issues
September 2010
ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2010, Vol. 1, No. 3
Original Article
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum
A.B. Ekici; D. Hilfinger; M. Jatzwauk; C.T. Thiel; D. Wenzel; I. Lorenz; E. Boltshauser; T.W. Goecke; G. Staatz; D.J. Morris-Rosendahl; H. Sticht; U. Hehr; A. Reis; A. Rauch
Mol Syndromol (2010) 1 (3): 99–112.
https://doi.org/10.1159/000319859
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A
R. Oegema; A. de Klein; A.J. Verkerk; R. Schot; B. Dumee; H. Douben; B. Eussen; L. Dubbel; P.J. Poddighe; I. van der Laar; W.B. Dobyns; P.J. van der Spek; M.H. Lequin; I.F.M. de Coo; M.-C.Y. de Wit; M.W. Wessels; G.M.S. Mancini
Mol Syndromol (2010) 1 (3): 113–120.
https://doi.org/10.1159/000320113
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
Mol Syndromol (2010) 1 (3): 121–126.
https://doi.org/10.1159/000320184
Case Report
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion
L.A. Praxedes; F.M. Pereira; J.F. Mazzeu; S.S. Costa; D.R. Bertola; C.A. Kim; A.M. Vianna-Morgante; P.A. Otto
Mol Syndromol (2010) 1 (3): 133–135.
https://doi.org/10.1159/000319976
