Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
J Med Genet. 1998 Aug;35(8):617-23. doi: 10.1136/jmg.35.8.617.
J Med Genet. 1998.
PMID: 9719364
Free PMC article.
In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal recessive inheritance has been proposed because of sib recurrence and consanguinity in some families....
In particular, our patients appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which autosomal r …