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Novel disease loci:
Biallelic mutations in the ios歪p恩 gene cause a novel primary ciliopathy
Genotype-phenotype correlations:
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Developmental defects:
Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms
Novel disease loci:
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis
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Genotype-phenotype correlations:
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Diagnostics:
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
Genotype-phenotype correlations:
A in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
Phenotypes:
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Developmental defects:
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Cancer genetics:
Variants in reveal distinct mechanisms for predisposition to papillary thyroid carcinoma
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primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
Ethics and policy:
Impacts of genomics on the health and social costs of intellectual disability
Genotype-phenotype correlations:
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Cancer genetics:
as a candidate high-penetrance melanoma susceptibility gene
Related Journals
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