Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

Laura Castilla-Vallmanya,Roser Urreizti,Héctor Franco,Jeanne Amiel,Tiong Yang Tan,Luitgard Graul-Neumann,Christopher T. Gordon,Daniel Grinberg

Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

2019

Laura Castilla-Vallmanya
Roser Urreizti
Héctor Franco
Jeanne Amiel
Tiong Yang Tan
Luitgard Graul-Neumann
Christopher T. Gordon
Daniel Grinberg

Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized bymultiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual andpsychomotor delay. [...]

Keywords:

Genetic disorder
Pathophysiology
Trigonocephaly
C syndrome
Rare disease
Biomarker (medicine)
Bioinformatics
Medicine

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