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Paper Details

Gonadal mosaicism in severe Pallister-Hall syndrome.
Am J Med Genet A
18
2004
3386delTT, F1129X, GLI3, GLI3 intragenic, GLI3 intragenic markers, HH, PHS, Pallister-Hall syndrome, bifid epiglottis, c.3385, children, codon 1129, exon 15, hypothalamic hamartoma, imperforate anus, mental retardation, non-syndromic HH, p.F1129X, pulmonary segmentation anomalies, renal abnormalities, seizures, wild type alleles

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Release 1.2