First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis

Am J Med Genet A. 2013 May;161A(5):1173-6. doi: 10.1002/ajmg.a.35813. Epub 2013 Mar 13.

Authors

Sara Ciceri¹, Elisa Cattaneo, Chiara Fossati, Paolo Radice, Angelo Selicorni, Daniela Perotti

Affiliation

¹ Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.

PMID: 23494899
DOI: 10.1002/ajmg.a.35813

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Diagnosis, Differential
Female
Humans
Infant
Male
Mutation
Osteosclerosis / diagnostic imaging*
Osteosclerosis / genetics*
Radiography
Tumor Suppressor Proteins / genetics*

Substances

AMER1 protein, human
Adaptor Proteins, Signal Transducing
Tumor Suppressor Proteins

Supplementary concepts

Osteopathia striata cranial sclerosis