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June 2012
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2012, Vol. 3, No. 1
Original Article
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome
Mol Syndromol (2012) 3 (1): 1–5.
https://doi.org/10.1159/000338706
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
M. Ghani-Kakhki; P.N. Robinson; S. Morlot; D. Mitter; M. Trimborn; B. Albrecht; R. Varon; K. Sperling; H. Neitzel
Mol Syndromol (2012) 3 (1): 6–13.
https://doi.org/10.1159/000338975
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills
A. Denayer; H. Van Esch; T. de Ravel; J.-P. Frijns; G. Van Buggenhout; A. Vogels; K. Devriendt; J. Geutjens; P. Thiry; A. Swillen
Mol Syndromol (2012) 3 (1): 14–20.
https://doi.org/10.1159/000339119
Short Report
Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome
Mol Syndromol (2012) 3 (1): 21–24.
https://doi.org/10.1159/000337928
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly
Mol Syndromol (2012) 3 (1): 25–29.
https://doi.org/10.1159/000339177
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome
Mol Syndromol (2012) 3 (1): 30–33.
https://doi.org/10.1159/000338816
NRAS Mutations in Noonan Syndrome
Mol Syndromol (2012) 3 (1): 34–38.
https://doi.org/10.1159/000338467
Case Report
Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features
Mol Syndromol (2012) 3 (1): 39–43.
https://doi.org/10.1159/000338468
