2018_04-_143-192.html





Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 04 ·


Volume 07 ·


December 2018


DOI: 10.1055/s-008-41866



Review Article


143


Heathfield, Laura Jane;

Martin, Lorna Jean;

Ramesar, Raj:


A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases



Original Article



Case Report


158


Rodríguez, Fernando;

Vallejos, Carla;

Bolanos-Garcia, Víctor M.;

Ponce, Diana;

Unanue, Nancy;

Garay, Francisco;

Cassorla, Fernando;

Aracena, Mariana:


Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with

KRAS

Variant



164


Callaway, Danielle A.;

Campbell, Ian M.;

Stover, Samantha R.;

Hernandez-Garcia, Andres;

Jhangiani, Shalini N.;

Punetha, Jaya;

Paine, Ingrid S.;

Posey, Jennifer E.;

Muzny, Donna;

Lally, Kevin P.;

Lupski, James R.;

Shaw, Chad A.;

Fernandes, Caraciolo J.;

Scott, Daryl A.:


Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm



174


Upadia, Jariya;

Gomes, Alicia;

Weiser, Peter;

Descartes, Maria:


A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome



180


Gorla, Sudheer R.;

Raja, Kishore R.;

Garg, Ashish;

Barbouth, Deborah S.;

Rusconi, Paolo G.:


Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis



185


Yakar, Fatih;

Celtikci, Emrah;

Ozgural, Onur;

Eroglu, Umit;

Caglar, Yusuf Sukru:


Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature



Book Review


191