A Consensus Conference utilizing available literature and expert opinion sponsored by the
American College of Medical Genetics in October 1995 evaluated the rational approach to …

The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …

Retinoic acid, an analogue of vitamin A, is known to be teratogenic in laboratory animals
and has recently been implicated in a few clinical case reports. To study the human …

The RASopathies are a family of developmental disorders caused by heritable defects of the
RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is …

Noonan syndrome is a developmental disorder characterized by short stature, facial
dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen …

We evaluated seven children who had been exposed to sodium valproate (or valproic acid)
in utero. A consistent facial phenotype was observed in all seven in addition to other birth …

Fundamental processes influencing human growth can be revealed by studying extreme
short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations …

Gene duplication is an important source of phenotypic change and adaptive evolution. We
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …

Walker‐Warburg syndrome (WWS) is an autosomal recessive disorder manifest by
characteristic brain and eye malformations. We reviewed data on 21 of our patients and an …

From 1983 through 1987, in a California population of 718,208 births, 237 infants were born
with a congenital diaphragmatic hernia (CDH), a birth prevalence of 3.30 per 10,000 total …