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Items: 3

1.
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BMC Med Genet. 2016; 17: 97. Published online 2016 Dec 13. doi: 10.1186/s12881-016-0361-8
PMCID:
PMC5154174
AbstractArticlePDF–583K
2.
Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis
Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, Maximilian Muenke
Pediatr Neurol. Author manuscript; available in PMC 2014 Aug 15.
Published in final edited form as: Pediatr Neurol. 2012 Nov; 47(5): 355–361. doi: 10.1016/j.pediatrneurol.2012.07.004
PMCID:
PMC4133743
AbstractArticlePDF–50K
3.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
Gabriela E Jones, Pia Ostergaard, Anthony T Moore, Fiona C Connell, Denise Williams, Oliver Quarrell, Angela F Brady, Isabel Spier, Filiz Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter S Mortimer, Pradeep C Vasudevan, Sahar Mansour
Eur J Hum Genet. 2014 Jul; 22(7): 881–887. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.263
PMCID:
PMC3938398
AbstractArticlePDF–976K

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