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Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1221 - 1232
ABSTRACT Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation
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