Brooks, A.S.

disease hirschsprung syndrome mutation hirschsprung disease patient family genet kiaa 1279 study region feature ednrb analysis protein retardation goldberg-shprintzen syndrome microcephaly development hofstra phenotype goldberg-shprintzen marker locus variant linkage amiel j expression syndromic osinga j system bardet-biedl syndrome susceptibility brook hofstra rm lyonnet sequence chromosome crest meijers c ziekte van hirschsprung amiel enteric abnormality hscr patients genetic defect moroccan family non-syndromic haplotype chapter candidate hypoventilation syndrome osinga inheritance autosomal munnich mowat-wilson syndrome month pathway endothelin mapping shah-waardenburg syndrome attie t ret proto-oncogene receptor brain recessive disorder child pelet function kiaa 1279 mutations bardet-biedl meijer association children shah-waardenburg genome ret gene