Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India - Moirangthem, Amita; Mandal, Kausik; Saxena, Deepti; Srivastava, Priyanka; Gambhir, Poonam Singh; Agrawal, Neha; Shambhavi, Arya; Nampoothiri, Sheela; Phadke, Shubha R. (American journal of medical genetics. Part A, 2021)
Keywords: 1-Phosphatidylinositol 3-kinase; AKT protein; Alleles; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 19; Chromosomes, Human, Pair 3; Cytogenetics; developmental delay; DNA Copy Number Variations; Epigenetics; Etiology; exome sequencing; Facies; Female; Foxp1 protein; Gene regulation; Genetic Association Studies - methods; Genetic Heterogeneity; Genetic Predisposition to Disease; Genotype; Gigantism - diagnosis; Gigantism - genetics; Growth Charts; Humans; India; Infant; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; macrocephaly; Magnetic Resonance Imaging; Male; overgrowth; Phenotype; PTEN protein; Sequence Analysis, DNA; Sotos syndrome; Whole Exome Sequencing; India; developmental delay; exome sequencing; macrocephaly; Sotos syndrome; overgrowth