Pfundt, Rolph

Update Persondata

• acid
• architecture
• chromosome
• expression
• gene
• genes
• mutation
• patients
• protein
• stress

Publications

(the most recent at the top)

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

All publications..