Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. [PDF]
Santos H, Mateus J, Leal MJ.
europepmc +1 more source
Concise review of recent studies in vitiligo. [PDF]
Allam M, Riad H.
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The genetic and environmental aetiology of ocular congenital anophthalmos, microphthalmos and uveal coloboma [PDF]
Morrison, Danny Albert
core +1 more source
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? [PDF]
Fewtrell MS +6 more
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Identification and expression of a novel homeobox gene in a megakaryocytic leukemia cell line [PDF]
Landesberg, Leonard John
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Hirschsprung's disease, distinctive facies, and microcephaly. [PDF]
Bankier A.
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Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. [PDF]
Carey ML +3 more
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A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. [PDF]
Hol FA +6 more
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