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A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
Somatic mosaicism for an HRAS mutation causes Costello syndrome
Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
BRCA1/2 testing in hereditary breast and ovarian cancer families III: Risk perception and screening
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness
Elejalde syndrome—A case report
Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?
4q35 deletion and 10p15 duplication associated with immunodeficiency
Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome
Chromosome 10q24.3-qter deletion associated with left-sided first branchial arch defect, diaphragmatic eventration, and duplicated renal pelvis
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg)
Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an ND1 gene mutation
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: Evidence for a common cause?
Expanding the clinical spectrum of MYCN -related Feingold syndrome