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M. Polymeropoulos, S. Ide, C. Francomano, 1996, Human Genetics.

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

T. Beaty, E. Pugh, J. Bailey-Wilson, 2003, European Journal of Human Genetics.

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

K. Blakemore, G. Bellus, C. Francomano, 1994, The Lancet.

The gene for pycnodysostosis maps to human chromosome 1cen–q21

M. Polymeropoulos, S. Ide, J. Rubenstein, 1995, Nature Genetics.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

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