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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
Further delineation of the KAT6B molecular and phenotypic spectrum
Mutations in a TGF-beta Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome
MLL2 mutation spectrum in 45 patients with Kabuki syndrome