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Variable phenotypic expression of COG6 mutations
Journal of Medical Genetics, 2014The Authors' reply We would like to thank Haijes and colleagues for their interest1 in our finding2 of a founder COG6 mutation in multiple patients with a novel syndrome of intellectual disability and hypohidrosis—a phenotype that is significantly different from the one described by Lubbehusen and …
Fowzan S, Alkuraya, Ranad, Shaheen
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Genetic and phenotypic variability of optic neuropathies
Expert Review of Neurotherapeutics, 2013Hereditary optic neuropathies comprise a group of clinically and genetically heterogeneous disorders. Two subgroups can be formed: isolated hereditary optic atrophies and optic neuropathy as part of complex disorders. In group 1 of hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease.
Teresa, Neuhann, Bernd, Rautenstrauss
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The impact of mistranslation on phenotypic variability and fitness
Evolution; International Journal of Organic Evolution, 2021Laasya Samhita +2 more
exaly
Autosomal rings and variable phenotypes
Human Genetics, 1973F, Hecht, R F, Vlietinck
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Phenotypic variability of Cat-Eye syndrome.
Genetic counseling (Geneva, Switzerland), 2001Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited marker chromosome, which represents an inverted dicentric duplication of a part of chromosome 22 (inv dup(22)).
Berends, M. J.W. +3 more
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Phenotypic variability in siblings with calpainopathy (LGMD2A).
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2008Calpainopathy is an autosomal-recessive limb girdle muscular dystrophy (LGMD2A) characterized by selective atrophy and weakness of proximal limb girdle muscles. The clinical phenotype of the disease is highly variable inter-familial, but little is known about intra-familial variability.
Schessl J +8 more
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The interplay of phenotypic variability and fitness in finite microbial populations
Journal of the Royal Society Interface, 2020Ethan Levien, Jané Kondev, Ariel Amir
exaly