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A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay
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Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy
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A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED) (vol 100, pg 164, 2001)
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Stable non-Robertsonian dicentric chromosomes: four new cases and a review
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Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)
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Two novel fibrillin-2 mutations in congenital contractural arachnodactyly
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Knobloch syndrome involving midline scalp defect of the frontal region
AMERICAN JOURNAL OF MEDICAL GENETICS
Nijmegen breakage syndrome
ARCHIVES OF DISEASE IN CHILDHOOD
A radiation hybrid map of 48 loci including the Clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q
GENOMICS
The Camera-Marugo-Cohen syndrome: Report of two new patients
AMERICAN JOURNAL OF MEDICAL GENETICS