In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics - Weiss, Karin; Kruszka, Paul; Guillen Sacoto, Maria J.; Addissie, Yonit A.; Hadley, Donald W.; Hadsall, Casey K.; Stokes, Bethany; Hu, Ping; Roessler, Erich; Solomon, Beth; Wiggs, Edythe; Thurm, Audrey; et al. (Genetics in medicine, 2018)
Keywords: 631/208/1516; 631/208/2489/1381; 692/699/375/2764; Adolescent; Adult; Adults; Biomedical and Life Sciences; Biomedicine; DISP1; Facies; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; holoprosencephaly; Holoprosencephaly - diagnosis; Holoprosencephaly - genetics; Human Genetics; Humans; Laboratory Medicine; Magnetic Resonance Imaging; Male; natural history; Neuropsychological Tests; Original; original-research-article; Phenotype; Registries; whole-exome sequencing; Young Adult; ZIC2; holoprosencephaly; ZIC2; natural history; whole-exome sequencing; DISP1