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Pedigree

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Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.
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Expanding the phenotype associated with biallelic SCNM1 variants.
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A Japanese family of hereditary diffuse gastric cancer with a germline pathogenic variant of CTNN1A detected via comprehensive genome profiling.
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Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.
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Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.
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Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.
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The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.
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