13 research outputs found
The gorlin (naevoid basal cell carcinoma) syndrome A clinical and genetic study
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Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6- cM interval and contributes to the fine map of 9q22.3
No full textUnknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
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Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
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Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
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