Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-019-01333-9
Abstract: Activity-dependent neuroprotective protein (ADNP) was discovered by the Gozes laboratory (Bassan et al. 1999; Gozes et al. 1999). Initial studies suggested that this protein is secreted from glial cells in the presence of vasoactive intestinal… read more here.
Keywords: rare case; developmental phenotype; adnp gene; gene ... See more keywords
Mutation in the ADNP gene associated with Noonan syndrome features
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000215
Abstract: Department of Medical and Metabolic Genetics, McGill University Health Centre, Montreal, Quebec, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Department of Clinical and Metabolic Genetics, The Hospital… read more here.
Keywords: gene associated; mutation adnp; genetics; department ... See more keywords