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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome,
Posted on by BMJ in Uncategorized
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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype,
Posted on by BMJ in Uncategorized
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A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family,
Posted on by BMJ in Uncategorized
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Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia,
Posted on by BMJ in Uncategorized
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Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK,
Posted on by BMJ in Uncategorized
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A homozygous nonsense mutation (c.214C>A) in biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis,
Posted on by BMJ in Uncategorized
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A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype–phenotype correlations,
Posted on by BMJ in Uncategorized
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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset,
Posted on by BMJ in Uncategorized
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DICER1 syndrome – clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome,
Posted on by BMJ in Uncategorized
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Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general pediatric population,
Posted on by BMJ in Uncategorized
