Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of
functional intestinal obstruction with an incidence of 1/5000 live births. This developmental …

Hirschsprung disease, or congenital aganglionic megacolon, is commonly assumed to be a
sex-modified multifactorial trait. To test this hypothesis, complex segregation analysis was …

Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics
including mental retardation, microcephaly, and distinct facial features 1, 2, 3, but the gene …

We have identified six children with a distinctive facial phenotype in association with mental
retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung …

Congenital colobomata of the eye are important causes of childhood visual impairment and
blindness. Ocular coloboma can be seen in isolation and in an impressive number of …

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in
1998. Over 45 cases have now been reported. All patients have typical dysmorphic features …

Optic fissure closure requires precise orchestration in timing and apposition of two poles of
the optic cup. The relative roles of genetics and environment on this process remain elusive …

Mowat‐Wilson syndrome (MWS) is a recently delineated mental retardation (MR)‐multiple
congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and …

We identified, by homozygosity mapping, a novel locus on 10q21. 3-q22. 1 for Goldberg-
Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic features …