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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinicalExpand
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FMR1 gray‐zone alleles: Association with Parkinson's disease in women?
Carriers of fragile X mental retardation 1 repeat expansions in the premutation range (55–200 CGG repeats), especially males, often develop tremor, ataxia, and parkinsonism. These neurological signsExpand
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Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation
A 17‐month‐old boy was referred with profound sensorineural hearing loss (SNHL), severe visual impairment and developmental delay. Neuroimaging identified hypomyelination and cochlear nerve aplasia.Expand
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% ofExpand
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Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome
Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is characterized by mental retardation, distinctive facial features, broad and often angulated thumbs and great toes,Expand
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A new hypothesis of OCA1B
Pigmentation is a polygenic trait determined primarily by the amount and type of pigments [Yamaguchi et al., 2007]. The spectrum of pigmentation in humans is highly diverse. Many genes are involvedExpand
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Oculocutaneous albinism spectrum
Oculocutaneous albinism (OCA) types 1, 2, 3, and 4 (OMIM 203100, 203200, 203290, 611409) are characterized as hypopigmentation of eyes, skin, and hair, and are generally considered autosomalExpand
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Development of genomic reference materials for Huntington disease genetic testing
Purpose: Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging,Expand
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Synergistic interaction of the OCA2 and OCA3 genes in a family
Oculocutaneous albinism (OCA) comprises a heterogeneous group of autosomal recessive disorders characterized by skin, hair and ocular hypopigmentation [reviewed by Grønskov et al., 2007]. AssociatedExpand
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
Considerable research has focused on patients with trinucleotide (CGG) repeat expansions in the fragile X mental retardation 1 (FMR1) gene that fall within either the full mutation (>200 repeats) orExpand
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